Canonical Allele Identifier: CA338162613

Gene: SLC45A1

Linked Data

• MyVariant Identifiers: chr1:g.8386019A>C (hg19) ; chr1:g.8325959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325959A>C , CM000663.2:g.8325959A>C	GRCh38
NC_000001.10:g.8386019A>C , CM000663.1:g.8386019A>C	GRCh37
NC_000001.9:g.8308606A>C	NCBI36
NG_034025.1:g.12875A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471889.7:c.632A>C MANE Select	ENSP00000418096.3:p.Asp211Ala
ENST00000289877.8:c.632A>C	ENSP00000289877.8:p.Asp211Ala
ENST00000471889.5:c.734A>C	ENSP00000418096.2:p.Asp245Ala
NM_001080397.2:c.734A>C	NP_001073866.2:p.Asp245Ala
XM_011541530.1:c.734A>C	XP_011539832.1:p.Asp245Ala
XM_011541531.1:c.641A>C	XP_011539833.1:p.Asp214Ala
XM_011541530.2:c.734A>C	XP_011539832.1:p.Asp245Ala
XM_011541531.2:c.641A>C	XP_011539833.1:p.Asp214Ala
XM_024447371.1:c.641A>C	XP_024303139.1:p.Asp214Ala
XM_024447372.1:c.26A>C	XP_024303140.1:p.Asp9Ala
NM_001080397.3:c.632A>C MANE Select	NP_001073866.3:p.Asp211Ala
NM_001379614.1:c.632A>C	NP_001366543.1:p.Asp211Ala
NM_001379615.1:c.539A>C	NP_001366544.1:p.Asp180Ala
NM_001379616.1:c.539A>C	NP_001366545.1:p.Asp180Ala
NM_001379617.1:c.26A>C	NP_001366546.1:p.Asp9Ala
NM_001379618.1:c.26A>C	NP_001366547.1:p.Asp9Ala