Canonical Allele Identifier: CA359393125

Gene: SLC45A2

Linked Data

• dbSNP Id: rs368411468
• gnomAD v4: 5-33963744-C-A
• MyVariant Identifiers: chr5:g.33963849C>A (hg19) ; chr5:g.33963744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963744C>A , CM000667.2:g.33963744C>A	GRCh38
NC_000005.9:g.33963849C>A , CM000667.1:g.33963849C>A	GRCh37
NC_000005.8:g.33999606C>A	NCBI36
NG_011691.2:g.25932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.835G>T MANE Select	ENSP00000296589.4:p.Val279Leu
ENST00000296589.8:c.835G>T	ENSP00000296589.4:p.Val279Leu
ENST00000382102.7:c.835G>T	ENSP00000371534.3:p.Val279Leu
ENST00000505056.1:n.637G>T
ENST00000509381.1:c.563-9240G>T	ENSP00000421100.1:n.563-9240G>T
ENST00000510600.1:c.310G>T	ENSP00000424010.1:p.Val104Leu
NM_001012509.3:c.835G>T	NP_001012527.1:p.Val279Leu
NM_001297417.2:c.563-9240G>T	NP_001284346.2:n.563-9240G>T
NM_016180.4:c.835G>T	NP_057264.3:p.Val279Leu
XM_011514051.1:c.433G>T	XP_011512353.1:p.Val145Leu
XM_011514052.1:c.835G>T	XP_011512354.1:p.Val279Leu
XR_925620.1:n.1652G>T
NM_016180.5:c.835G>T MANE Select	NP_057264.4:p.Val279Leu
NM_001012509.4:c.835G>T	NP_001012527.2:p.Val279Leu
NM_001297417.3:c.563-9240G>T	NP_001284346.2:n.563-9240G>T
NM_001297417.4:c.563-9240G>T	NP_001284346.2:n.563-9240G>T