Canonical Allele Identifier: CA360697917

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761762-C-T
• MyVariant Identifiers: chr5:g.110097462C>T (hg19) ; chr5:g.110761762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761762C>T , CM000667.2:g.110761762C>T	GRCh38
NC_000005.9:g.110097462C>T , CM000667.1:g.110097462C>T	GRCh37
NC_000005.8:g.110125361C>T	NCBI36
NG_051334.1:g.28627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1237C>T MANE Select	ENSP00000348211.3:p.Leu413Phe
ENST00000355943.7:c.1237C>T	ENSP00000348211.3:p.Leu413Phe
ENST00000447245.6:c.994C>T	ENSP00000399717.2:p.Leu332Phe
ENST00000504098.1:c.799C>T	ENSP00000425708.1:p.Leu267Phe
ENST00000509432.1:c.598C>T	ENSP00000426604.1:p.Leu200Phe
ENST00000513706.2:n.2837C>T
ENST00000513807.5:c.751C>T	ENSP00000421134.1:p.Leu251Phe
NM_001303249.1:c.994C>T	NP_001290178.1:p.Leu332Phe
NM_001303250.1:c.964C>T	NP_001290179.1:p.Leu322Phe
NM_138773.2:c.1237C>T	NP_620128.1:p.Leu413Phe
NM_001303249.2:c.994C>T	NP_001290178.1:p.Leu332Phe
NM_001303250.2:c.964C>T	NP_001290179.1:p.Leu322Phe
NM_138773.3:c.1237C>T	NP_620128.1:p.Leu413Phe
NR_138151.1:n.1511C>T
NM_138773.4:c.1237C>T MANE Select	NP_620128.1:p.Leu413Phe
NM_001303249.3:c.994C>T	NP_001290178.1:p.Leu332Phe
NM_001303250.3:c.964C>T	NP_001290179.1:p.Leu322Phe
NR_138151.2:n.1476C>T