Canonical Allele Identifier: CA359390003

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1464545731
• gnomAD v4: 5-33951643-T-C
• MyVariant Identifiers: chr5:g.33951748T>C (hg19) ; chr5:g.33951643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951643T>C , CM000667.2:g.33951643T>C	GRCh38
NC_000005.9:g.33951748T>C , CM000667.1:g.33951748T>C	GRCh37
NC_000005.8:g.33987505T>C	NCBI36
NG_011691.2:g.38033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1067A>G MANE Select	ENSP00000296589.4:p.Asn356Ser
ENST00000296589.8:c.1067A>G	ENSP00000296589.4:p.Asn356Ser
ENST00000382102.7:c.1067A>G	ENSP00000371534.3:p.Asn356Ser
ENST00000509381.1:c.*9A>G	ENSP00000421100.1:n.*9A>G
ENST00000510600.1:c.542A>G	ENSP00000424010.1:p.Asn181Ser
NM_001012509.3:c.1067A>G	NP_001012527.1:p.Asn356Ser
NM_001297417.2:c.*9A>G	NP_001284346.2:n.*9A>G
NM_016180.4:c.1067A>G	NP_057264.3:p.Asn356Ser
XM_011514051.1:c.665A>G	XP_011512353.1:p.Asn222Ser
XR_925620.1:n.1884A>G
NM_016180.5:c.1067A>G MANE Select	NP_057264.4:p.Asn356Ser
NM_001012509.4:c.1067A>G	NP_001012527.2:p.Asn356Ser
NM_001297417.3:c.*9A>G	NP_001284346.2:n.*9A>G
NM_001297417.4:c.*9A>G	NP_001284346.2:n.*9A>G