Canonical Allele Identifier: CA359389775

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951691C>T (hg19) ; chr5:g.33951586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951586C>T , CM000667.2:g.33951586C>T	GRCh38
NC_000005.9:g.33951691C>T , CM000667.1:g.33951691C>T	GRCh37
NC_000005.8:g.33987448C>T	NCBI36
NG_011691.2:g.38090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1124G>A MANE Select	ENSP00000296589.4:p.Cys375Tyr
ENST00000296589.8:c.1124G>A	ENSP00000296589.4:p.Cys375Tyr
ENST00000382102.7:c.1124G>A	ENSP00000371534.3:p.Cys375Tyr
ENST00000509381.1:c.*66G>A	ENSP00000421100.1:n.*66G>A
ENST00000510600.1:c.599G>A	ENSP00000424010.1:p.Cys200Tyr
NM_001012509.3:c.1124G>A	NP_001012527.1:p.Cys375Tyr
NM_001297417.2:c.*66G>A	NP_001284346.2:n.*66G>A
NM_016180.4:c.1124G>A	NP_057264.3:p.Cys375Tyr
XM_011514051.1:c.722G>A	XP_011512353.1:p.Cys241Tyr
XR_925620.1:n.1941G>A
NM_016180.5:c.1124G>A MANE Select	NP_057264.4:p.Cys375Tyr
NM_001012509.4:c.1124G>A	NP_001012527.2:p.Cys375Tyr
NM_001297417.3:c.*66G>A	NP_001284346.2:n.*66G>A
NM_001297417.4:c.*66G>A	NP_001284346.2:n.*66G>A