Canonical Allele Identifier: CA558969318

Gene: SLC45A2

Linked Data

• dbSNP Id: rs781046827
• gnomAD v2: 5-33984715-G-A
• gnomAD v3: 5-33984610-G-A
• gnomAD v4: 5-33984610-G-A
• MyVariant Identifiers: chr5:g.33984715G>A (hg19) ; chr5:g.33984610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984610G>A , CM000667.2:g.33984610G>A	GRCh38
NC_000005.9:g.33984715G>A , CM000667.1:g.33984715G>A	GRCh37
NC_000005.8:g.34020472G>A	NCBI36
NG_011691.2:g.5066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.-27C>T MANE Select	ENSP00000296589.4:n.-27C>T
ENST00000296589.8:c.-27C>T	ENSP00000296589.4:n.-27C>T
ENST00000382102.7:c.-27C>T	ENSP00000371534.3:n.-27C>T
ENST00000509381.1:c.-27C>T	ENSP00000421100.1:n.-27C>T
NM_001012509.3:c.-27C>T	NP_001012527.1:n.-27C>T
NM_001297417.2:c.-27C>T	NP_001284346.2:n.-27C>T
NM_016180.4:c.-27C>T	NP_057264.3:n.-27C>T
XM_011514052.1:c.-27C>T	XP_011512354.1:n.-27C>T
XR_925620.1:n.535C>T
NM_016180.5:c.-27C>T MANE Select	NP_057264.4:n.-27C>T
NM_001012509.4:c.-27C>T	NP_001012527.2:n.-27C>T
NM_001297417.3:c.-27C>T	NP_001284346.2:n.-27C>T
NM_001297417.4:c.-27C>T	NP_001284346.2:n.-27C>T