Canonical Allele Identifier: CA364307945

Gene: SLC29A1 POLR1C

Linked Data

• dbSNP Id: rs1333777931
• gnomAD v3: 6-44230872-T-C
• gnomAD v4: 6-44230872-T-C
• MyVariant Identifiers: chr6:g.44198609T>C (hg19) ; chr6:g.44230872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44230872T>C , CM000668.2:g.44230872T>C	GRCh38
NC_000006.11:g.44198609T>C , CM000668.1:g.44198609T>C	GRCh37
NC_000006.10:g.44306587T>C	NCBI36
NG_042893.1:g.16368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371713.6:c.749T>C (SLC29A1)	ENSP00000360778.1:p.Leu250Ser
ENST00000371724.6:c.749T>C (SLC29A1)	ENSP00000360789.1:p.Leu250Ser
ENST00000371755.9:c.749T>C (SLC29A1) MANE Select	ENSP00000360820.3:p.Leu250Ser
ENST00000393844.7:c.749T>C (SLC29A1)	ENSP00000377427.1:p.Leu250Ser
ENST00000472176.2:n.1147T>C (SLC29A1)
ENST00000646251.1:c.436T>C (SLC29A1)
ENST00000651428.1:c.749T>C (SLC29A1)	ENSP00000498610.1:p.Leu250Ser
ENST00000652453.1:c.749T>C (SLC29A1)	ENSP00000499107.1:p.Leu250Ser
ENST00000652680.1:c.749T>C (SLC29A1)	ENSP00000498747.1:p.Leu250Ser
ENST00000371708.1:c.749T>C (SLC29A1)	ENSP00000360773.1:p.Leu250Ser
ENST00000371713.5:c.749T>C (SLC29A1)	ENSP00000360778.1:p.Leu250Ser
ENST00000371724.5:c.749T>C (SLC29A1)	ENSP00000360789.1:p.Leu250Ser
ENST00000371731.5:c.749T>C (SLC29A1)	ENSP00000360796.1:p.Leu250Ser
ENST00000371740.9:c.749T>C (SLC29A1)	ENSP00000360805.5:p.Leu250Ser
ENST00000371755.7:c.749T>C (SLC29A1)	ENSP00000360820.3:p.Leu250Ser
ENST00000393841.5:c.749T>C (SLC29A1)	ENSP00000377424.1:p.Leu250Ser
ENST00000393844.5:c.749T>C (SLC29A1)	ENSP00000377427.1:p.Leu250Ser
ENST00000427851.6:c.749T>C (SLC29A1)	ENSP00000392668.2:p.Leu250Ser
ENST00000472176.1:n.938T>C (SLC29A1)
NM_001078175.2:c.749T>C (SLC29A1)	NP_001071643.1:p.Leu250Ser
NM_001078177.1:c.749T>C (SLC29A1)	NP_001071645.1:p.Leu250Ser
NM_001304462.1:c.986T>C (SLC29A1)	NP_001291391.1:p.Leu329Ser
NM_001304463.1:c.875T>C (SLC29A1)	NP_001291392.1:p.Leu292Ser
NM_001304465.1:c.827T>C (SLC29A1)	NP_001291394.1:p.Leu276Ser
NM_001304466.1:c.824T>C (SLC29A1)	NP_001291395.1:p.Leu275Ser
XM_005248876.3:c.878T>C (SLC29A1)	XP_005248933.1:p.Leu293Ser
XM_005248878.3:c.749T>C (SLC29A1)	XP_005248935.1:p.Leu250Ser
XM_005248879.3:c.749T>C (SLC29A1)	XP_005248936.1:p.Leu250Ser
XM_005248880.3:c.749T>C (SLC29A1)	XP_005248937.1:p.Leu250Ser
XM_005248881.3:c.749T>C (SLC29A1)	XP_005248938.1:p.Leu250Ser
XM_005248882.3:c.749T>C (SLC29A1)	XP_005248939.1:p.Leu250Ser
XM_011514341.1:c.989T>C (SLC29A1)	XP_011512643.1:p.Leu330Ser
XM_005248876.5:c.878T>C (SLC29A1)	XP_005248933.1:p.Leu293Ser
XM_005248878.4:c.749T>C (SLC29A1)	XP_005248935.1:p.Leu250Ser
XM_005248879.4:c.749T>C (SLC29A1)	XP_005248936.1:p.Leu250Ser
XM_005248880.4:c.749T>C (SLC29A1)	XP_005248937.1:p.Leu250Ser
XM_005248881.4:c.749T>C (SLC29A1)	XP_005248938.1:p.Leu250Ser
XM_005248882.4:c.749T>C (SLC29A1)	XP_005248939.1:p.Leu250Ser
XM_011514341.2:c.989T>C (SLC29A1)	XP_011512643.1:p.Leu330Ser
XM_024446348.1:c.749T>C (SLC29A1)	XP_024302116.1:p.Leu250Ser
NM_001078175.3:c.749T>C (SLC29A1)	NP_001071643.1:p.Leu250Ser
NM_001078177.2:c.749T>C (SLC29A1)	NP_001071645.1:p.Leu250Ser
NM_001304462.2:c.986T>C (SLC29A1)	NP_001291391.1:p.Leu329Ser
NM_001304465.2:c.827T>C (SLC29A1)	NP_001291394.1:p.Leu276Ser
NM_001304466.2:c.824T>C (SLC29A1)	NP_001291395.1:p.Leu275Ser
NM_001372327.1:c.749T>C (SLC29A1) MANE Select	NP_001359256.1:p.Leu250Ser
NM_001318876.2:c.946-211018T>C (POLR1C)	NP_001305805.1:n.946-211018T>C