Canonical Allele Identifier: CA359394379

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1752528119
• gnomAD v4: 5-33963999-C-T
• MyVariant Identifiers: chr5:g.33964104C>T (hg19) ; chr5:g.33963999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963999C>T , CM000667.2:g.33963999C>T	GRCh38
NC_000005.9:g.33964104C>T , CM000667.1:g.33964104C>T	GRCh37
NC_000005.8:g.33999861C>T	NCBI36
NG_011691.2:g.25677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.580G>A MANE Select	ENSP00000296589.4:p.Gly194Ser
ENST00000296589.8:c.580G>A	ENSP00000296589.4:p.Gly194Ser
ENST00000382102.7:c.580G>A	ENSP00000371534.3:p.Gly194Ser
ENST00000505056.1:n.382G>A
ENST00000509381.1:c.563-9495G>A	ENSP00000421100.1:n.563-9495G>A
ENST00000510600.1:c.55G>A	ENSP00000424010.1:p.Gly19Ser
NM_001012509.3:c.580G>A	NP_001012527.1:p.Gly194Ser
NM_001297417.2:c.563-9495G>A	NP_001284346.2:n.563-9495G>A
NM_016180.4:c.580G>A	NP_057264.3:p.Gly194Ser
XM_011514051.1:c.178G>A	XP_011512353.1:p.Gly60Ser
XM_011514052.1:c.580G>A	XP_011512354.1:p.Gly194Ser
XR_925620.1:n.1397G>A
NM_016180.5:c.580G>A MANE Select	NP_057264.4:p.Gly194Ser
NM_001012509.4:c.580G>A	NP_001012527.2:p.Gly194Ser
NM_001297417.3:c.563-9495G>A	NP_001284346.2:n.563-9495G>A
NM_001297417.4:c.563-9495G>A	NP_001284346.2:n.563-9495G>A