Canonical Allele Identifier: CA338162630

Gene: SLC45A1

Linked Data

• dbSNP Id: rs1244965189
• gnomAD v2: 1-8386022-A-C
• MyVariant Identifiers: chr1:g.8386022A>C (hg19) ; chr1:g.8325962A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325962A>C , CM000663.2:g.8325962A>C	GRCh38
NC_000001.10:g.8386022A>C , CM000663.1:g.8386022A>C	GRCh37
NC_000001.9:g.8308609A>C	NCBI36
NG_034025.1:g.12878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471889.7:c.635A>C MANE Select	ENSP00000418096.3:p.Asn212Thr
ENST00000289877.8:c.635A>C	ENSP00000289877.8:p.Asn212Thr
ENST00000471889.5:c.737A>C	ENSP00000418096.2:p.Asn246Thr
NM_001080397.2:c.737A>C	NP_001073866.2:p.Asn246Thr
XM_011541530.1:c.737A>C	XP_011539832.1:p.Asn246Thr
XM_011541531.1:c.644A>C	XP_011539833.1:p.Asn215Thr
XM_011541530.2:c.737A>C	XP_011539832.1:p.Asn246Thr
XM_011541531.2:c.644A>C	XP_011539833.1:p.Asn215Thr
XM_024447371.1:c.644A>C	XP_024303139.1:p.Asn215Thr
XM_024447372.1:c.29A>C	XP_024303140.1:p.Asn10Thr
NM_001080397.3:c.635A>C MANE Select	NP_001073866.3:p.Asn212Thr
NM_001379614.1:c.635A>C	NP_001366543.1:p.Asn212Thr
NM_001379615.1:c.542A>C	NP_001366544.1:p.Asn181Thr
NM_001379616.1:c.542A>C	NP_001366545.1:p.Asn181Thr
NM_001379617.1:c.29A>C	NP_001366546.1:p.Asn10Thr
NM_001379618.1:c.29A>C	NP_001366547.1:p.Asn10Thr