Canonical Allele Identifier: CA570149

Gene: SLC45A1

Linked Data

• ClinVar Variation Id: 695570
• ClinVar RCV Id: RCV000861328
• dbSNP Id: rs61746724
• ExAC: 1:8386017 G / A
• gnomAD v2: 1-8386017-G-A
• gnomAD v3: 1-8325957-G-A
• gnomAD v4: 1-8325957-G-A
• MyVariant Identifiers: chr1:g.8386017G>A (hg19) ; chr1:g.8325957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325957G>A , CM000663.2:g.8325957G>A	GRCh38
NC_000001.10:g.8386017G>A , CM000663.1:g.8386017G>A	GRCh37
NC_000001.9:g.8308604G>A	NCBI36
NG_034025.1:g.12873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000471889.7:c.630G>A MANE Select	ENSP00000418096.3:p.Ala210=
ENST00000289877.8:c.630G>A	ENSP00000289877.8:p.Ala210=
ENST00000471889.5:c.732G>A	ENSP00000418096.2:p.Ala244=
NM_001080397.2:c.732G>A	NP_001073866.2:p.Ala244=
XM_011541530.1:c.732G>A	XP_011539832.1:p.Ala244=
XM_011541531.1:c.639G>A	XP_011539833.1:p.Ala213=
XM_011541530.2:c.732G>A	XP_011539832.1:p.Ala244=
XM_011541531.2:c.639G>A	XP_011539833.1:p.Ala213=
XM_024447371.1:c.639G>A	XP_024303139.1:p.Ala213=
XM_024447372.1:c.24G>A	XP_024303140.1:p.Ala8=
NM_001080397.3:c.630G>A MANE Select	NP_001073866.3:p.Ala210=
NM_001379614.1:c.630G>A	NP_001366543.1:p.Ala210=
NM_001379615.1:c.537G>A	NP_001366544.1:p.Ala179=
NM_001379616.1:c.537G>A	NP_001366545.1:p.Ala179=
NM_001379617.1:c.24G>A	NP_001366546.1:p.Ala8=
NM_001379618.1:c.24G>A	NP_001366547.1:p.Ala8=