Canonical Allele Identifier: CA3225600

Gene: SLC45A2

Linked Data

• dbSNP Id: rs747719304
• ExAC: 5:33951778 A / G
• gnomAD v2: 5-33951778-A-G
• gnomAD v3: 5-33951673-A-G
• gnomAD v4: 5-33951673-A-G
• MyVariant Identifiers: chr5:g.33951778A>G (hg19) ; chr5:g.33951673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951673A>G , CM000667.2:g.33951673A>G	GRCh38
NC_000005.9:g.33951778A>G , CM000667.1:g.33951778A>G	GRCh37
NC_000005.8:g.33987535A>G	NCBI36
NG_011691.2:g.38003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1037T>C MANE Select	ENSP00000296589.4:p.Val346Ala
ENST00000296589.8:c.1037T>C	ENSP00000296589.4:p.Val346Ala
ENST00000382102.7:c.1037T>C	ENSP00000371534.3:p.Val346Ala
ENST00000509381.1:c.711T>C	ENSP00000421100.1:p.Cys237=
ENST00000510600.1:c.512T>C	ENSP00000424010.1:p.Val171Ala
NM_001012509.3:c.1037T>C	NP_001012527.1:p.Val346Ala
NM_001297417.2:c.711T>C	NP_001284346.2:p.Cys237=
NM_016180.4:c.1037T>C	NP_057264.3:p.Val346Ala
XM_011514051.1:c.635T>C	XP_011512353.1:p.Val212Ala
XR_925620.1:n.1854T>C
NM_016180.5:c.1037T>C MANE Select	NP_057264.4:p.Val346Ala
NM_001012509.4:c.1037T>C	NP_001012527.2:p.Val346Ala
NM_001297417.3:c.711T>C	NP_001284346.2:p.Cys237=
NM_001297417.4:c.711T>C	NP_001284346.2:p.Cys237=