Canonical Allele Identifier: CA359394013

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33963907-C-A
• COSMIC: COSM6171081
• MyVariant Identifiers: chr5:g.33964012C>A (hg19) ; chr5:g.33963907C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963907C>A , CM000667.2:g.33963907C>A	GRCh38
NC_000005.9:g.33964012C>A , CM000667.1:g.33964012C>A	GRCh37
NC_000005.8:g.33999769C>A	NCBI36
NG_011691.2:g.25769G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.672G>T MANE Select	ENSP00000296589.4:p.Leu224Phe
ENST00000296589.8:c.672G>T	ENSP00000296589.4:p.Leu224Phe
ENST00000382102.7:c.672G>T	ENSP00000371534.3:p.Leu224Phe
ENST00000505056.1:n.474G>T
ENST00000509381.1:c.563-9403G>T	ENSP00000421100.1:n.563-9403G>T
ENST00000510600.1:c.147G>T	ENSP00000424010.1:p.Leu49Phe
NM_001012509.3:c.672G>T	NP_001012527.1:p.Leu224Phe
NM_001297417.2:c.563-9403G>T	NP_001284346.2:n.563-9403G>T
NM_016180.4:c.672G>T	NP_057264.3:p.Leu224Phe
XM_011514051.1:c.270G>T	XP_011512353.1:p.Leu90Phe
XM_011514052.1:c.672G>T	XP_011512354.1:p.Leu224Phe
XR_925620.1:n.1489G>T
NM_016180.5:c.672G>T MANE Select	NP_057264.4:p.Leu224Phe
NM_001012509.4:c.672G>T	NP_001012527.2:p.Leu224Phe
NM_001297417.3:c.563-9403G>T	NP_001284346.2:n.563-9403G>T
NM_001297417.4:c.563-9403G>T	NP_001284346.2:n.563-9403G>T