Canonical Allele Identifier: CA359389806

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951699C>G (hg19) ; chr5:g.33951594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951594C>G , CM000667.2:g.33951594C>G	GRCh38
NC_000005.9:g.33951699C>G , CM000667.1:g.33951699C>G	GRCh37
NC_000005.8:g.33987456C>G	NCBI36
NG_011691.2:g.38082G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1116G>C MANE Select	ENSP00000296589.4:p.Trp372Cys
ENST00000296589.8:c.1116G>C	ENSP00000296589.4:p.Trp372Cys
ENST00000382102.7:c.1116G>C	ENSP00000371534.3:p.Trp372Cys
ENST00000509381.1:c.*58G>C	ENSP00000421100.1:n.*58G>C
ENST00000510600.1:c.591G>C	ENSP00000424010.1:p.Trp197Cys
NM_001012509.3:c.1116G>C	NP_001012527.1:p.Trp372Cys
NM_001297417.2:c.*58G>C	NP_001284346.2:n.*58G>C
NM_016180.4:c.1116G>C	NP_057264.3:p.Trp372Cys
XM_011514051.1:c.714G>C	XP_011512353.1:p.Trp238Cys
XR_925620.1:n.1933G>C
NM_016180.5:c.1116G>C MANE Select	NP_057264.4:p.Trp372Cys
NM_001012509.4:c.1116G>C	NP_001012527.2:p.Trp372Cys
NM_001297417.3:c.*58G>C	NP_001284346.2:n.*58G>C
NM_001297417.4:c.*58G>C	NP_001284346.2:n.*58G>C