Canonical Allele Identifier: CA450308502

Gene: SLC29A1 POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44198336C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44230599C>A , CM000668.2:g.44230599C>A	GRCh38
NC_000006.11:g.44198336C>A , CM000668.1:g.44198336C>A	GRCh37
NC_000006.10:g.44306314C>A	NCBI36
NG_042893.1:g.16095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371713.6:c.621C>A (SLC29A1)	ENSP00000360778.1:p.Gly207=
ENST00000371724.6:c.621C>A (SLC29A1)	ENSP00000360789.1:p.Gly207=
ENST00000371731.6:c.621C>A (SLC29A1)	ENSP00000360796.2:p.Gly207=
ENST00000371740.10:c.621C>A (SLC29A1)	ENSP00000360805.6:p.Gly207=
ENST00000371755.9:c.621C>A (SLC29A1) MANE Select	ENSP00000360820.3:p.Gly207=
ENST00000393844.7:c.621C>A (SLC29A1)	ENSP00000377427.1:p.Gly207=
ENST00000472176.2:n.1019C>A (SLC29A1)
ENST00000643028.2:c.564C>A (SLC29A1)	ENSP00000495211.2:p.Gly188=
ENST00000646251.1:c.308C>A (SLC29A1)
ENST00000651428.1:c.621C>A (SLC29A1)	ENSP00000498610.1:p.Gly207=
ENST00000652453.1:c.621C>A (SLC29A1)	ENSP00000499107.1:p.Gly207=
ENST00000652680.1:c.621C>A (SLC29A1)	ENSP00000498747.1:p.Gly207=
ENST00000371708.1:c.621C>A (SLC29A1)	ENSP00000360773.1:p.Gly207=
ENST00000371713.5:c.621C>A (SLC29A1)	ENSP00000360778.1:p.Gly207=
ENST00000371724.5:c.621C>A (SLC29A1)	ENSP00000360789.1:p.Gly207=
ENST00000371731.5:c.621C>A (SLC29A1)	ENSP00000360796.1:p.Gly207=
ENST00000371740.9:c.621C>A (SLC29A1)	ENSP00000360805.5:p.Gly207=
ENST00000371755.7:c.621C>A (SLC29A1)	ENSP00000360820.3:p.Gly207=
ENST00000393841.5:c.621C>A (SLC29A1)	ENSP00000377424.1:p.Gly207=
ENST00000393844.5:c.621C>A (SLC29A1)	ENSP00000377427.1:p.Gly207=
ENST00000427851.6:c.621C>A (SLC29A1)	ENSP00000392668.2:p.Gly207=
ENST00000472176.1:n.810C>A (SLC29A1)
NM_001078175.2:c.621C>A (SLC29A1)	NP_001071643.1:p.Gly207=
NM_001078177.1:c.621C>A (SLC29A1)	NP_001071645.1:p.Gly207=
NM_001304462.1:c.858C>A (SLC29A1)	NP_001291391.1:p.Gly286=
NM_001304463.1:c.747C>A (SLC29A1)	NP_001291392.1:p.Gly249=
NM_001304465.1:c.699C>A (SLC29A1)	NP_001291394.1:p.Gly233=
NM_001304466.1:c.696C>A (SLC29A1)	NP_001291395.1:p.Gly232=
XM_005248876.3:c.750C>A (SLC29A1)	XP_005248933.1:p.Gly250=
XM_005248878.3:c.621C>A (SLC29A1)	XP_005248935.1:p.Gly207=
XM_005248879.3:c.621C>A (SLC29A1)	XP_005248936.1:p.Gly207=
XM_005248880.3:c.621C>A (SLC29A1)	XP_005248937.1:p.Gly207=
XM_005248881.3:c.621C>A (SLC29A1)	XP_005248938.1:p.Gly207=
XM_005248882.3:c.621C>A (SLC29A1)	XP_005248939.1:p.Gly207=
XM_011514341.1:c.861C>A (SLC29A1)	XP_011512643.1:p.Gly287=
XM_005248876.5:c.750C>A (SLC29A1)	XP_005248933.1:p.Gly250=
XM_005248878.4:c.621C>A (SLC29A1)	XP_005248935.1:p.Gly207=
XM_005248879.4:c.621C>A (SLC29A1)	XP_005248936.1:p.Gly207=
XM_005248880.4:c.621C>A (SLC29A1)	XP_005248937.1:p.Gly207=
XM_005248881.4:c.621C>A (SLC29A1)	XP_005248938.1:p.Gly207=
XM_005248882.4:c.621C>A (SLC29A1)	XP_005248939.1:p.Gly207=
XM_011514341.2:c.861C>A (SLC29A1)	XP_011512643.1:p.Gly287=
XM_024446348.1:c.621C>A (SLC29A1)	XP_024302116.1:p.Gly207=
NM_001078175.3:c.621C>A (SLC29A1)	NP_001071643.1:p.Gly207=
NM_001078177.2:c.621C>A (SLC29A1)	NP_001071645.1:p.Gly207=
NM_001304462.2:c.858C>A (SLC29A1)	NP_001291391.1:p.Gly286=
NM_001304465.2:c.699C>A (SLC29A1)	NP_001291394.1:p.Gly233=
NM_001304466.2:c.696C>A (SLC29A1)	NP_001291395.1:p.Gly232=
NM_001372327.1:c.621C>A (SLC29A1) MANE Select	NP_001359256.1:p.Gly207=
NM_001318876.2:c.946-211291C>A (POLR1C)	NP_001305805.1:n.946-211291C>A