Canonical Allele Identifier: CA338162661

Gene: SLC45A1

Linked Data

• MyVariant Identifiers: chr1:g.8386029C>G (hg19) ; chr1:g.8325969C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325969C>G , CM000663.2:g.8325969C>G	GRCh38
NC_000001.10:g.8386029C>G , CM000663.1:g.8386029C>G	GRCh37
NC_000001.9:g.8308616C>G	NCBI36
NG_034025.1:g.12885C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471889.7:c.642C>G MANE Select	ENSP00000418096.3:p.Ser214Arg
ENST00000289877.8:c.642C>G	ENSP00000289877.8:p.Ser214Arg
ENST00000471889.5:c.744C>G	ENSP00000418096.2:p.Ser248Arg
NM_001080397.2:c.744C>G	NP_001073866.2:p.Ser248Arg
XM_011541530.1:c.744C>G	XP_011539832.1:p.Ser248Arg
XM_011541531.1:c.651C>G	XP_011539833.1:p.Ser217Arg
XM_011541530.2:c.744C>G	XP_011539832.1:p.Ser248Arg
XM_011541531.2:c.651C>G	XP_011539833.1:p.Ser217Arg
XM_024447371.1:c.651C>G	XP_024303139.1:p.Ser217Arg
XM_024447372.1:c.36C>G	XP_024303140.1:p.Ser12Arg
NM_001080397.3:c.642C>G MANE Select	NP_001073866.3:p.Ser214Arg
NM_001379614.1:c.642C>G	NP_001366543.1:p.Ser214Arg
NM_001379615.1:c.549C>G	NP_001366544.1:p.Ser183Arg
NM_001379616.1:c.549C>G	NP_001366545.1:p.Ser183Arg
NM_001379617.1:c.36C>G	NP_001366546.1:p.Ser12Arg
NM_001379618.1:c.36C>G	NP_001366547.1:p.Ser12Arg