Canonical Allele Identifier: CA3225865

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2596326
• ClinVar RCV Id: RCV003347715
• dbSNP Id: rs746810929
• ExAC: 5:33984526 A / T
• gnomAD v2: 5-33984526-A-T
• gnomAD v4: 5-33984421-A-T
• MyVariant Identifiers: chr5:g.33984526A>T (hg19) ; chr5:g.33984421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984421A>T , CM000667.2:g.33984421A>T	GRCh38
NC_000005.9:g.33984526A>T , CM000667.1:g.33984526A>T	GRCh37
NC_000005.8:g.34020283A>T	NCBI36
NG_011691.2:g.5255T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.163T>A MANE Select	ENSP00000296589.4:p.Tyr55Asn
ENST00000296589.8:c.163T>A	ENSP00000296589.4:p.Tyr55Asn
ENST00000382102.7:c.163T>A	ENSP00000371534.3:p.Tyr55Asn
ENST00000505056.1:n.142T>A
ENST00000509381.1:c.163T>A	ENSP00000421100.1:p.Tyr55Asn
NM_001012509.3:c.163T>A	NP_001012527.1:p.Tyr55Asn
NM_001297417.2:c.163T>A	NP_001284346.2:p.Tyr55Asn
NM_016180.4:c.163T>A	NP_057264.3:p.Tyr55Asn
XM_011514052.1:c.163T>A	XP_011512354.1:p.Tyr55Asn
XR_925620.1:n.724T>A
NM_016180.5:c.163T>A MANE Select	NP_057264.4:p.Tyr55Asn
NM_001012509.4:c.163T>A	NP_001012527.2:p.Tyr55Asn
NM_001297417.3:c.163T>A	NP_001284346.2:p.Tyr55Asn
NM_001297417.4:c.163T>A	NP_001284346.2:p.Tyr55Asn