Canonical Allele Identifier: CA359390164

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951670-T-G
• MyVariant Identifiers: chr5:g.33951775T>G (hg19) ; chr5:g.33951670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951670T>G , CM000667.2:g.33951670T>G	GRCh38
NC_000005.9:g.33951775T>G , CM000667.1:g.33951775T>G	GRCh37
NC_000005.8:g.33987532T>G	NCBI36
NG_011691.2:g.38006A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1040A>C MANE Select	ENSP00000296589.4:p.Tyr347Ser
ENST00000296589.8:c.1040A>C	ENSP00000296589.4:p.Tyr347Ser
ENST00000382102.7:c.1040A>C	ENSP00000371534.3:p.Tyr347Ser
ENST00000509381.1:c.714A>C	ENSP00000421100.1:p.Val238=
ENST00000510600.1:c.515A>C	ENSP00000424010.1:p.Tyr172Ser
NM_001012509.3:c.1040A>C	NP_001012527.1:p.Tyr347Ser
NM_001297417.2:c.714A>C	NP_001284346.2:p.Val238=
NM_016180.4:c.1040A>C	NP_057264.3:p.Tyr347Ser
XM_011514051.1:c.638A>C	XP_011512353.1:p.Tyr213Ser
XR_925620.1:n.1857A>C
NM_016180.5:c.1040A>C MANE Select	NP_057264.4:p.Tyr347Ser
NM_001012509.4:c.1040A>C	NP_001012527.2:p.Tyr347Ser
NM_001297417.3:c.714A>C	NP_001284346.2:p.Val238=
NM_001297417.4:c.714A>C	NP_001284346.2:p.Val238=