Canonical Allele Identifier: CA359398019

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1753193083
• gnomAD v3: 5-33984559-C-T
• gnomAD v4: 5-33984559-C-T
• MyVariant Identifiers: chr5:g.33984664C>T (hg19) ; chr5:g.33984559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984559C>T , CM000667.2:g.33984559C>T	GRCh38
NC_000005.9:g.33984664C>T , CM000667.1:g.33984664C>T	GRCh37
NC_000005.8:g.34020421C>T	NCBI36
NG_011691.2:g.5117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.25G>A MANE Select	ENSP00000296589.4:p.Gly9Ser
ENST00000296589.8:c.25G>A	ENSP00000296589.4:p.Gly9Ser
ENST00000382102.7:c.25G>A	ENSP00000371534.3:p.Gly9Ser
ENST00000505056.1:n.4G>A
ENST00000509381.1:c.25G>A	ENSP00000421100.1:p.Gly9Ser
NM_001012509.3:c.25G>A	NP_001012527.1:p.Gly9Ser
NM_001297417.2:c.25G>A	NP_001284346.2:p.Gly9Ser
NM_016180.4:c.25G>A	NP_057264.3:p.Gly9Ser
XM_011514052.1:c.25G>A	XP_011512354.1:p.Gly9Ser
XR_925620.1:n.586G>A
NM_016180.5:c.25G>A MANE Select	NP_057264.4:p.Gly9Ser
NM_001012509.4:c.25G>A	NP_001012527.2:p.Gly9Ser
NM_001297417.3:c.25G>A	NP_001284346.2:p.Gly9Ser
NM_001297417.4:c.25G>A	NP_001284346.2:p.Gly9Ser