Canonical Allele Identifier: CA359389782

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951694A>T (hg19) ; chr5:g.33951589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951589A>T , CM000667.2:g.33951589A>T	GRCh38
NC_000005.9:g.33951694A>T , CM000667.1:g.33951694A>T	GRCh37
NC_000005.8:g.33987451A>T	NCBI36
NG_011691.2:g.38087T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1121T>A MANE Select	ENSP00000296589.4:p.Leu374Ter
ENST00000296589.8:c.1121T>A	ENSP00000296589.4:p.Leu374Ter
ENST00000382102.7:c.1121T>A	ENSP00000371534.3:p.Leu374Ter
ENST00000509381.1:c.*63T>A	ENSP00000421100.1:n.*63T>A
ENST00000510600.1:c.596T>A	ENSP00000424010.1:p.Leu199Ter
NM_001012509.3:c.1121T>A	NP_001012527.1:p.Phe374Tyr
NM_001297417.2:c.*63T>A	NP_001284346.2:n.*63T>A
NM_016180.4:c.1121T>A	NP_057264.3:p.Phe374Tyr
XM_011514051.1:c.719T>A	XP_011512353.1:p.Leu240Ter
XR_925620.1:n.1938T>A
NM_016180.5:c.1121T>A MANE Select	NP_057264.4:p.Leu374Ter
NM_001012509.4:c.1121T>A	NP_001012527.2:p.Leu374Ter
NM_001297417.3:c.*63T>A	NP_001284346.2:n.*63T>A
NM_001297417.4:c.*63T>A	NP_001284346.2:n.*63T>A