Canonical Allele Identifier: CA443872173

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1416916228
• gnomAD v4: 5-33984230-A-G
• MyVariant Identifiers: chr5:g.33984335A>G (hg19) ; chr5:g.33984230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984230A>G , CM000667.2:g.33984230A>G	GRCh38
NC_000005.9:g.33984335A>G , CM000667.1:g.33984335A>G	GRCh37
NC_000005.8:g.34020092A>G	NCBI36
NG_011691.2:g.5446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.354T>C MANE Select	ENSP00000296589.4:p.Ala118=
ENST00000296589.8:c.354T>C	ENSP00000296589.4:p.Ala118=
ENST00000382102.7:c.354T>C	ENSP00000371534.3:p.Ala118=
ENST00000505056.1:n.333T>C
ENST00000509381.1:c.354T>C	ENSP00000421100.1:p.Ala118=
ENST00000510600.1:c.6T>C	ENSP00000424010.1:p.Ala2=
NM_001012509.3:c.354T>C	NP_001012527.1:p.Ala118=
NM_001297417.2:c.354T>C	NP_001284346.2:p.Ala118=
NM_016180.4:c.354T>C	NP_057264.3:p.Ala118=
XM_011514052.1:c.354T>C	XP_011512354.1:p.Ala118=
XR_925620.1:n.915T>C
NM_016180.5:c.354T>C MANE Select	NP_057264.4:p.Ala118=
NM_001012509.4:c.354T>C	NP_001012527.2:p.Ala118=
NM_001297417.3:c.354T>C	NP_001284346.2:p.Ala118=
NM_001297417.4:c.354T>C	NP_001284346.2:p.Ala118=