Canonical Allele Identifier: CA445964792

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761647-T-C
• MyVariant Identifiers: chr5:g.110097347T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761647T>C , CM000667.2:g.110761647T>C	GRCh38
NC_000005.9:g.110097347T>C , CM000667.1:g.110097347T>C	GRCh37
NC_000005.8:g.110125246T>C	NCBI36
NG_051334.1:g.28512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1122T>C MANE Select	ENSP00000348211.3:p.Asn374=
ENST00000355943.7:c.1122T>C	ENSP00000348211.3:p.Asn374=
ENST00000447245.6:c.879T>C	ENSP00000399717.2:p.Asn293=
ENST00000502462.6:n.1438T>C
ENST00000504098.1:c.684T>C	ENSP00000425708.1:p.Asn228=
ENST00000509432.1:c.483T>C	ENSP00000426604.1:p.Asn161=
ENST00000513706.2:n.2722T>C
ENST00000513807.5:c.636T>C	ENSP00000421134.1:p.Asn212=
NM_001303249.1:c.879T>C	NP_001290178.1:p.Asn293=
NM_001303250.1:c.849T>C	NP_001290179.1:p.Asn283=
NM_138773.2:c.1122T>C	NP_620128.1:p.Asn374=
NM_001303249.2:c.879T>C	NP_001290178.1:p.Asn293=
NM_001303250.2:c.849T>C	NP_001290179.1:p.Asn283=
NM_138773.3:c.1122T>C	NP_620128.1:p.Asn374=
NR_138151.1:n.1396T>C
NM_138773.4:c.1122T>C MANE Select	NP_620128.1:p.Asn374=
NM_001303249.3:c.879T>C	NP_001290178.1:p.Asn293=
NM_001303250.3:c.849T>C	NP_001290179.1:p.Asn283=
NR_138151.2:n.1361T>C