Canonical Allele Identifier: CA359389981

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1438765408
• gnomAD v2: 5-33951743-T-C
• gnomAD v3: 5-33951638-T-C
• gnomAD v4: 5-33951638-T-C
• MyVariant Identifiers: chr5:g.33951743T>C (hg19) ; chr5:g.33951638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951638T>C , CM000667.2:g.33951638T>C	GRCh38
NC_000005.9:g.33951743T>C , CM000667.1:g.33951743T>C	GRCh37
NC_000005.8:g.33987500T>C	NCBI36
NG_011691.2:g.38038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1072A>G MANE Select	ENSP00000296589.4:p.Thr358Ala
ENST00000296589.8:c.1072A>G	ENSP00000296589.4:p.Thr358Ala
ENST00000382102.7:c.1072A>G	ENSP00000371534.3:p.Thr358Ala
ENST00000509381.1:c.*14A>G	ENSP00000421100.1:n.*14A>G
ENST00000510600.1:c.547A>G	ENSP00000424010.1:p.Thr183Ala
NM_001012509.3:c.1072A>G	NP_001012527.1:p.Thr358Ala
NM_001297417.2:c.*14A>G	NP_001284346.2:n.*14A>G
NM_016180.4:c.1072A>G	NP_057264.3:p.Thr358Ala
XM_011514051.1:c.670A>G	XP_011512353.1:p.Thr224Ala
XR_925620.1:n.1889A>G
NM_016180.5:c.1072A>G MANE Select	NP_057264.4:p.Thr358Ala
NM_001012509.4:c.1072A>G	NP_001012527.2:p.Thr358Ala
NM_001297417.3:c.*14A>G	NP_001284346.2:n.*14A>G
NM_001297417.4:c.*14A>G	NP_001284346.2:n.*14A>G