Canonical Allele Identifier: CA359389794

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951592-C-G
• MyVariant Identifiers: chr5:g.33951697C>G (hg19) ; chr5:g.33951592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951592C>G , CM000667.2:g.33951592C>G	GRCh38
NC_000005.9:g.33951697C>G , CM000667.1:g.33951697C>G	GRCh37
NC_000005.8:g.33987454C>G	NCBI36
NG_011691.2:g.38084G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1118G>C MANE Select	ENSP00000296589.4:p.Gly373Ala
ENST00000296589.8:c.1118G>C	ENSP00000296589.4:p.Gly373Ala
ENST00000382102.7:c.1118G>C	ENSP00000371534.3:p.Gly373Ala
ENST00000509381.1:c.*60G>C	ENSP00000421100.1:n.*60G>C
ENST00000510600.1:c.593G>C	ENSP00000424010.1:p.Gly198Ala
NM_001012509.3:c.1118G>C	NP_001012527.1:p.Gly373Ala
NM_001297417.2:c.*60G>C	NP_001284346.2:n.*60G>C
NM_016180.4:c.1118G>C	NP_057264.3:p.Gly373Ala
XM_011514051.1:c.716G>C	XP_011512353.1:p.Gly239Ala
XR_925620.1:n.1935G>C
NM_016180.5:c.1118G>C MANE Select	NP_057264.4:p.Gly373Ala
NM_001012509.4:c.1118G>C	NP_001012527.2:p.Gly373Ala
NM_001297417.3:c.*60G>C	NP_001284346.2:n.*60G>C
NM_001297417.4:c.*60G>C	NP_001284346.2:n.*60G>C