Canonical Allele Identifier: CA3225741

Gene: SLC45A2

Linked Data

• dbSNP Id: rs759637475
• ExAC: 5:33964110 C / A
• gnomAD v2: 5-33964110-C-A
• gnomAD v3: 5-33964005-C-A
• gnomAD v4: 5-33964005-C-A
• MyVariant Identifiers: chr5:g.33964110C>A (hg19) ; chr5:g.33964005C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964005C>A , CM000667.2:g.33964005C>A	GRCh38
NC_000005.9:g.33964110C>A , CM000667.1:g.33964110C>A	GRCh37
NC_000005.8:g.33999867C>A	NCBI36
NG_011691.2:g.25671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.574G>T MANE Select	ENSP00000296589.4:p.Ala192Ser
ENST00000296589.8:c.574G>T	ENSP00000296589.4:p.Ala192Ser
ENST00000382102.7:c.574G>T	ENSP00000371534.3:p.Ala192Ser
ENST00000505056.1:n.376G>T
ENST00000509381.1:c.563-9501G>T	ENSP00000421100.1:n.563-9501G>T
ENST00000510600.1:c.49G>T	ENSP00000424010.1:p.Ala17Ser
NM_001012509.3:c.574G>T	NP_001012527.1:p.Ala192Ser
NM_001297417.2:c.563-9501G>T	NP_001284346.2:n.563-9501G>T
NM_016180.4:c.574G>T	NP_057264.3:p.Ala192Ser
XM_011514051.1:c.172G>T	XP_011512353.1:p.Ala58Ser
XM_011514052.1:c.574G>T	XP_011512354.1:p.Ala192Ser
XR_925620.1:n.1391G>T
NM_016180.5:c.574G>T MANE Select	NP_057264.4:p.Ala192Ser
NM_001012509.4:c.574G>T	NP_001012527.2:p.Ala192Ser
NM_001297417.3:c.563-9501G>T	NP_001284346.2:n.563-9501G>T
NM_001297417.4:c.563-9501G>T	NP_001284346.2:n.563-9501G>T