Canonical Allele Identifier: CA364307557

Gene: SLC29A1 POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44198568G>T (hg19) ; chr6:g.44230831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44230831G>T , CM000668.2:g.44230831G>T	GRCh38
NC_000006.11:g.44198568G>T , CM000668.1:g.44198568G>T	GRCh37
NC_000006.10:g.44306546G>T	NCBI36
NG_042893.1:g.16327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371713.6:c.708G>T (SLC29A1)	ENSP00000360778.1:p.Gln236His
ENST00000371724.6:c.708G>T (SLC29A1)	ENSP00000360789.1:p.Gln236His
ENST00000371755.9:c.708G>T (SLC29A1) MANE Select	ENSP00000360820.3:p.Gln236His
ENST00000393844.7:c.708G>T (SLC29A1)	ENSP00000377427.1:p.Gln236His
ENST00000472176.2:n.1106G>T (SLC29A1)
ENST00000646251.1:c.395G>T (SLC29A1)
ENST00000651428.1:c.708G>T (SLC29A1)	ENSP00000498610.1:p.Gln236His
ENST00000652453.1:c.708G>T (SLC29A1)	ENSP00000499107.1:p.Gln236His
ENST00000652680.1:c.708G>T (SLC29A1)	ENSP00000498747.1:p.Gln236His
ENST00000371708.1:c.708G>T (SLC29A1)	ENSP00000360773.1:p.Gln236His
ENST00000371713.5:c.708G>T (SLC29A1)	ENSP00000360778.1:p.Gln236His
ENST00000371724.5:c.708G>T (SLC29A1)	ENSP00000360789.1:p.Gln236His
ENST00000371731.5:c.708G>T (SLC29A1)	ENSP00000360796.1:p.Gln236His
ENST00000371740.9:c.708G>T (SLC29A1)	ENSP00000360805.5:p.Gln236His
ENST00000371755.7:c.708G>T (SLC29A1)	ENSP00000360820.3:p.Gln236His
ENST00000393841.5:c.708G>T (SLC29A1)	ENSP00000377424.1:p.Gln236His
ENST00000393844.5:c.708G>T (SLC29A1)	ENSP00000377427.1:p.Gln236His
ENST00000427851.6:c.708G>T (SLC29A1)	ENSP00000392668.2:p.Gln236His
ENST00000472176.1:n.897G>T (SLC29A1)
NM_001078175.2:c.708G>T (SLC29A1)	NP_001071643.1:p.Gln236His
NM_001078177.1:c.708G>T (SLC29A1)	NP_001071645.1:p.Gln236His
NM_001304462.1:c.945G>T (SLC29A1)	NP_001291391.1:p.Gln315His
NM_001304463.1:c.834G>T (SLC29A1)	NP_001291392.1:p.Gln278His
NM_001304465.1:c.786G>T (SLC29A1)	NP_001291394.1:p.Gln262His
NM_001304466.1:c.783G>T (SLC29A1)	NP_001291395.1:p.Gln261His
XM_005248876.3:c.837G>T (SLC29A1)	XP_005248933.1:p.Gln279His
XM_005248878.3:c.708G>T (SLC29A1)	XP_005248935.1:p.Gln236His
XM_005248879.3:c.708G>T (SLC29A1)	XP_005248936.1:p.Gln236His
XM_005248880.3:c.708G>T (SLC29A1)	XP_005248937.1:p.Gln236His
XM_005248881.3:c.708G>T (SLC29A1)	XP_005248938.1:p.Gln236His
XM_005248882.3:c.708G>T (SLC29A1)	XP_005248939.1:p.Gln236His
XM_011514341.1:c.948G>T (SLC29A1)	XP_011512643.1:p.Gln316His
XM_005248876.5:c.837G>T (SLC29A1)	XP_005248933.1:p.Gln279His
XM_005248878.4:c.708G>T (SLC29A1)	XP_005248935.1:p.Gln236His
XM_005248879.4:c.708G>T (SLC29A1)	XP_005248936.1:p.Gln236His
XM_005248880.4:c.708G>T (SLC29A1)	XP_005248937.1:p.Gln236His
XM_005248881.4:c.708G>T (SLC29A1)	XP_005248938.1:p.Gln236His
XM_005248882.4:c.708G>T (SLC29A1)	XP_005248939.1:p.Gln236His
XM_011514341.2:c.948G>T (SLC29A1)	XP_011512643.1:p.Gln316His
XM_024446348.1:c.708G>T (SLC29A1)	XP_024302116.1:p.Gln236His
NM_001078175.3:c.708G>T (SLC29A1)	NP_001071643.1:p.Gln236His
NM_001078177.2:c.708G>T (SLC29A1)	NP_001071645.1:p.Gln236His
NM_001304462.2:c.945G>T (SLC29A1)	NP_001291391.1:p.Gln315His
NM_001304465.2:c.786G>T (SLC29A1)	NP_001291394.1:p.Gln262His
NM_001304466.2:c.783G>T (SLC29A1)	NP_001291395.1:p.Gln261His
NM_001372327.1:c.708G>T (SLC29A1) MANE Select	NP_001359256.1:p.Gln236His
NM_001318876.2:c.946-211059G>T (POLR1C)	NP_001305805.1:n.946-211059G>T