Canonical Allele Identifier: CA3364818

Gene: SLC25A46

Linked Data

• dbSNP Id: rs758693452
• ExAC: 5:110097394 G / A
• gnomAD v2: 5-110097394-G-A
• gnomAD v4: 5-110761694-G-A
• MyVariant Identifiers: chr5:g.110097394G>A (hg19) ; chr5:g.110761694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761694G>A , CM000667.2:g.110761694G>A	GRCh38
NC_000005.9:g.110097394G>A , CM000667.1:g.110097394G>A	GRCh37
NC_000005.8:g.110125293G>A	NCBI36
NG_051334.1:g.28559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1169G>A MANE Select	ENSP00000348211.3:p.Gly390Asp
ENST00000355943.7:c.1169G>A	ENSP00000348211.3:p.Gly390Asp
ENST00000447245.6:c.926G>A	ENSP00000399717.2:p.Gly309Asp
ENST00000504098.1:c.731G>A	ENSP00000425708.1:p.Gly244Asp
ENST00000509432.1:c.530G>A	ENSP00000426604.1:p.Gly177Asp
ENST00000513706.2:n.2769G>A
ENST00000513807.5:c.683G>A	ENSP00000421134.1:p.Gly228Asp
NM_001303249.1:c.926G>A	NP_001290178.1:p.Gly309Asp
NM_001303250.1:c.896G>A	NP_001290179.1:p.Gly299Asp
NM_138773.2:c.1169G>A	NP_620128.1:p.Gly390Asp
NM_001303249.2:c.926G>A	NP_001290178.1:p.Gly309Asp
NM_001303250.2:c.896G>A	NP_001290179.1:p.Gly299Asp
NM_138773.3:c.1169G>A	NP_620128.1:p.Gly390Asp
NR_138151.1:n.1443G>A
NM_138773.4:c.1169G>A MANE Select	NP_620128.1:p.Gly390Asp
NM_001303249.3:c.926G>A	NP_001290178.1:p.Gly309Asp
NM_001303250.3:c.896G>A	NP_001290179.1:p.Gly299Asp
NR_138151.2:n.1408G>A