Canonical Allele Identifier: CA359389833

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951599-A-G
• MyVariant Identifiers: chr5:g.33951704A>G (hg19) ; chr5:g.33951599A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951599A>G , CM000667.2:g.33951599A>G	GRCh38
NC_000005.9:g.33951704A>G , CM000667.1:g.33951704A>G	GRCh37
NC_000005.8:g.33987461A>G	NCBI36
NG_011691.2:g.38077T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1111T>C MANE Select	ENSP00000296589.4:p.Cys371Arg
ENST00000296589.8:c.1111T>C	ENSP00000296589.4:p.Cys371Arg
ENST00000382102.7:c.1111T>C	ENSP00000371534.3:p.Cys371Arg
ENST00000509381.1:c.*53T>C	ENSP00000421100.1:n.*53T>C
ENST00000510600.1:c.586T>C	ENSP00000424010.1:p.Cys196Arg
NM_001012509.3:c.1111T>C	NP_001012527.1:p.Cys371Arg
NM_001297417.2:c.*53T>C	NP_001284346.2:n.*53T>C
NM_016180.4:c.1111T>C	NP_057264.3:p.Cys371Arg
XM_011514051.1:c.709T>C	XP_011512353.1:p.Cys237Arg
XR_925620.1:n.1928T>C
NM_016180.5:c.1111T>C MANE Select	NP_057264.4:p.Cys371Arg
NM_001012509.4:c.1111T>C	NP_001012527.2:p.Cys371Arg
NM_001297417.3:c.*53T>C	NP_001284346.2:n.*53T>C
NM_001297417.4:c.*53T>C	NP_001284346.2:n.*53T>C