Canonical Allele Identifier: CA359393164

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33963855C>A (hg19) ; chr5:g.33963750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963750C>A , CM000667.2:g.33963750C>A	GRCh38
NC_000005.9:g.33963855C>A , CM000667.1:g.33963855C>A	GRCh37
NC_000005.8:g.33999612C>A	NCBI36
NG_011691.2:g.25926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.829G>T MANE Select	ENSP00000296589.4:p.Gly277Cys
ENST00000296589.8:c.829G>T	ENSP00000296589.4:p.Gly277Cys
ENST00000382102.7:c.829G>T	ENSP00000371534.3:p.Gly277Cys
ENST00000505056.1:n.631G>T
ENST00000509381.1:c.563-9246G>T	ENSP00000421100.1:n.563-9246G>T
ENST00000510600.1:c.304G>T	ENSP00000424010.1:p.Gly102Cys
NM_001012509.3:c.829G>T	NP_001012527.1:p.Gly277Cys
NM_001297417.2:c.563-9246G>T	NP_001284346.2:n.563-9246G>T
NM_016180.4:c.829G>T	NP_057264.3:p.Gly277Cys
XM_011514051.1:c.427G>T	XP_011512353.1:p.Gly143Cys
XM_011514052.1:c.829G>T	XP_011512354.1:p.Gly277Cys
XR_925620.1:n.1646G>T
NM_016180.5:c.829G>T MANE Select	NP_057264.4:p.Gly277Cys
NM_001012509.4:c.829G>T	NP_001012527.2:p.Gly277Cys
NM_001297417.3:c.563-9246G>T	NP_001284346.2:n.563-9246G>T
NM_001297417.4:c.563-9246G>T	NP_001284346.2:n.563-9246G>T