Canonical Allele Identifier: CA2673476870

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951388-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951388G>A , CM000667.2:g.33951388G>A	GRCh38
NC_000005.9:g.33951493G>A , CM000667.1:g.33951493G>A	GRCh37
NC_000005.8:g.33987250G>A	NCBI36
NG_011691.2:g.38288C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1156+166C>T MANE Select	ENSP00000296589.4:n.1156+166C>T
ENST00000296589.8:c.1156+166C>T	ENSP00000296589.4:n.1156+166C>T
ENST00000382102.7:c.1156+166C>T	ENSP00000371534.3:n.1156+166C>T
ENST00000510600.1:c.631+166C>T	ENSP00000424010.1:n.631+166C>T
NM_001012509.3:c.1156+166C>T	NP_001012527.1:n.1156+166C>T
NM_016180.4:c.1156+166C>T	NP_057264.3:n.1156+166C>T
XM_011514051.1:c.754+166C>T	XP_011512353.1:n.754+166C>T
XR_925620.1:n.1973+166C>T
NM_016180.5:c.1156+166C>T MANE Select	NP_057264.4:n.1156+166C>T
NM_001012509.4:c.1156+166C>T	NP_001012527.2:n.1156+166C>T
NM_001297417.4:c.*264C>T	NP_001284346.2:n.*264C>T