Canonical Allele Identifier: CA570150

Gene: SLC45A1

Linked Data

• dbSNP Id: rs765565455
• ExAC: 1:8386030 C / A
• gnomAD v2: 1-8386030-C-A
• MyVariant Identifiers: chr1:g.8386030C>A (hg19) ; chr1:g.8325970C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325970C>A , CM000663.2:g.8325970C>A	GRCh38
NC_000001.10:g.8386030C>A , CM000663.1:g.8386030C>A	GRCh37
NC_000001.9:g.8308617C>A	NCBI36
NG_034025.1:g.12886C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000471889.7:c.643C>A MANE Select	ENSP00000418096.3:p.His215Asn
ENST00000289877.8:c.643C>A	ENSP00000289877.8:p.His215Asn
ENST00000471889.5:c.745C>A	ENSP00000418096.2:p.His249Asn
NM_001080397.2:c.745C>A	NP_001073866.2:p.His249Asn
XM_011541530.1:c.745C>A	XP_011539832.1:p.His249Asn
XM_011541531.1:c.652C>A	XP_011539833.1:p.His218Asn
XM_011541530.2:c.745C>A	XP_011539832.1:p.His249Asn
XM_011541531.2:c.652C>A	XP_011539833.1:p.His218Asn
XM_024447371.1:c.652C>A	XP_024303139.1:p.His218Asn
XM_024447372.1:c.37C>A	XP_024303140.1:p.His13Asn
NM_001080397.3:c.643C>A MANE Select	NP_001073866.3:p.His215Asn
NM_001379614.1:c.643C>A	NP_001366543.1:p.His215Asn
NM_001379615.1:c.550C>A	NP_001366544.1:p.His184Asn
NM_001379616.1:c.550C>A	NP_001366545.1:p.His184Asn
NM_001379617.1:c.37C>A	NP_001366546.1:p.His13Asn
NM_001379618.1:c.37C>A	NP_001366547.1:p.His13Asn