Canonical Allele Identifier: CA1538211587

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1752089533
• gnomAD v4: 5-33951375-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951375A>G , CM000667.2:g.33951375A>G	GRCh38
NC_000005.9:g.33951480A>G , CM000667.1:g.33951480A>G	GRCh37
NC_000005.8:g.33987237A>G	NCBI36
NG_011691.2:g.38301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1156+179T>C MANE Select	ENSP00000296589.4:n.1156+179T>C
ENST00000296589.8:c.1156+179T>C	ENSP00000296589.4:n.1156+179T>C
ENST00000382102.7:c.1156+179T>C	ENSP00000371534.3:n.1156+179T>C
ENST00000510600.1:c.631+179T>C	ENSP00000424010.1:n.631+179T>C
NM_001012509.3:c.1156+179T>C	NP_001012527.1:n.1156+179T>C
NM_016180.4:c.1156+179T>C	NP_057264.3:n.1156+179T>C
XM_011514051.1:c.754+179T>C	XP_011512353.1:n.754+179T>C
XR_925620.1:n.1973+179T>C
NM_016180.5:c.1156+179T>C MANE Select	NP_057264.4:n.1156+179T>C
NM_001012509.4:c.1156+179T>C	NP_001012527.2:n.1156+179T>C
NM_001297417.4:c.*277T>C	NP_001284346.2:n.*277T>C