Canonical Allele Identifier: CA558966577

Gene: SLC45A2

Linked Data

• dbSNP Id: rs904517277
• gnomAD v2: 5-33951926-C-A
• gnomAD v3: 5-33951821-C-A
• gnomAD v4: 5-33951821-C-A
• MyVariant Identifiers: chr5:g.33951926C>A (hg19) ; chr5:g.33951821C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951821C>A , CM000667.2:g.33951821C>A	GRCh38
NC_000005.9:g.33951926C>A , CM000667.1:g.33951926C>A	GRCh37
NC_000005.8:g.33987683C>A	NCBI36
NG_011691.2:g.37855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1033-144G>T MANE Select	ENSP00000296589.4:n.1033-144G>T
ENST00000296589.8:c.1033-144G>T	ENSP00000296589.4:n.1033-144G>T
ENST00000382102.7:c.1033-144G>T	ENSP00000371534.3:n.1033-144G>T
ENST00000509381.1:c.707-144G>T	ENSP00000421100.1:n.707-144G>T
ENST00000510600.1:c.508-144G>T	ENSP00000424010.1:n.508-144G>T
NM_001012509.3:c.1033-144G>T	NP_001012527.1:n.1033-144G>T
NM_001297417.2:c.707-144G>T	NP_001284346.2:n.707-144G>T
NM_016180.4:c.1033-144G>T	NP_057264.3:n.1033-144G>T
XM_011514051.1:c.631-144G>T	XP_011512353.1:n.631-144G>T
XR_925620.1:n.1850-144G>T
NM_016180.5:c.1033-144G>T MANE Select	NP_057264.4:n.1033-144G>T
NM_001012509.4:c.1033-144G>T	NP_001012527.2:n.1033-144G>T
NM_001297417.3:c.707-144G>T	NP_001284346.2:n.707-144G>T
NM_001297417.4:c.707-144G>T	NP_001284346.2:n.707-144G>T