Canonical Allele Identifier: CA445803835

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096915T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761215T>C , CM000667.2:g.110761215T>C	GRCh38
NC_000005.9:g.110096915T>C , CM000667.1:g.110096915T>C	GRCh37
NC_000005.8:g.110124814T>C	NCBI36
NG_051334.1:g.28080T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.690T>C MANE Select	ENSP00000348211.3:p.Ile230=
ENST00000355943.7:c.690T>C	ENSP00000348211.3:p.Ile230=
ENST00000447245.6:c.679-232T>C	ENSP00000399717.2:n.679-232T>C
ENST00000502462.6:n.1006T>C
ENST00000504098.1:c.252T>C	ENSP00000425708.1:p.Ile84=
ENST00000509432.1:c.51T>C	ENSP00000426604.1:p.Ile17=
ENST00000513706.2:n.2290T>C
ENST00000513807.5:c.204T>C	ENSP00000421134.1:p.Ile68=
NM_001303249.1:c.679-232T>C	NP_001290178.1:n.679-232T>C
NM_001303250.1:c.417T>C	NP_001290179.1:p.Ile139=
NM_138773.2:c.690T>C	NP_620128.1:p.Ile230=
NM_001303249.2:c.679-232T>C	NP_001290178.1:n.679-232T>C
NM_001303250.2:c.417T>C	NP_001290179.1:p.Ile139=
NM_138773.3:c.690T>C	NP_620128.1:p.Ile230=
NR_138151.1:n.964T>C
NM_138773.4:c.690T>C MANE Select	NP_620128.1:p.Ile230=
NM_001303249.3:c.679-232T>C	NP_001290178.1:n.679-232T>C
NM_001303250.3:c.417T>C	NP_001290179.1:p.Ile139=
NR_138151.2:n.929T>C