Canonical Allele Identifier: CA443659219

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951609-G-T
• COSMIC: COSM6171084 ; COSM6171085
• MyVariant Identifiers: chr5:g.33951714G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951609G>T , CM000667.2:g.33951609G>T	GRCh38
NC_000005.9:g.33951714G>T , CM000667.1:g.33951714G>T	GRCh37
NC_000005.8:g.33987471G>T	NCBI36
NG_011691.2:g.38067C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1101C>A MANE Select	ENSP00000296589.4:p.Val367=
ENST00000296589.8:c.1101C>A	ENSP00000296589.4:p.Val367=
ENST00000382102.7:c.1101C>A	ENSP00000371534.3:p.Val367=
ENST00000509381.1:c.*43C>A	ENSP00000421100.1:n.*43C>A
ENST00000510600.1:c.576C>A	ENSP00000424010.1:p.Val192=
NM_001012509.3:c.1101C>A	NP_001012527.1:p.Val367=
NM_001297417.2:c.*43C>A	NP_001284346.2:n.*43C>A
NM_016180.4:c.1101C>A	NP_057264.3:p.Val367=
XM_011514051.1:c.699C>A	XP_011512353.1:p.Val233=
XR_925620.1:n.1918C>A
NM_016180.5:c.1101C>A MANE Select	NP_057264.4:p.Val367=
NM_001012509.4:c.1101C>A	NP_001012527.2:p.Val367=
NM_001297417.3:c.*43C>A	NP_001284346.2:n.*43C>A
NM_001297417.4:c.*43C>A	NP_001284346.2:n.*43C>A