Canonical Allele Identifier: CA2739274640

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2835145
• ClinVar RCV Id: RCV003686992

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951542A>T , CM000667.2:g.33951542A>T	GRCh38
NC_000005.9:g.33951647A>T , CM000667.1:g.33951647A>T	GRCh37
NC_000005.8:g.33987404A>T	NCBI36
NG_011691.2:g.38134T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1156+12T>A MANE Select	ENSP00000296589.4:n.1156+12T>A
ENST00000296589.8:c.1156+12T>A	ENSP00000296589.4:n.1156+12T>A
ENST00000382102.7:c.1156+12T>A	ENSP00000371534.3:n.1156+12T>A
ENST00000509381.1:c.*110T>A	ENSP00000421100.1:n.*110T>A
ENST00000510600.1:c.631+12T>A	ENSP00000424010.1:n.631+12T>A
NM_001012509.3:c.1156+12T>A	NP_001012527.1:n.1156+12T>A
NM_001297417.2:c.*110T>A	NP_001284346.2:n.*110T>A
NM_016180.4:c.1156+12T>A	NP_057264.3:n.1156+12T>A
XM_011514051.1:c.754+12T>A	XP_011512353.1:n.754+12T>A
XR_925620.1:n.1973+12T>A
NM_016180.5:c.1156+12T>A MANE Select	NP_057264.4:n.1156+12T>A
NM_001012509.4:c.1156+12T>A	NP_001012527.2:n.1156+12T>A
NM_001297417.3:c.*110T>A	NP_001284346.2:n.*110T>A
NM_001297417.4:c.*110T>A	NP_001284346.2:n.*110T>A