Canonical Allele Identifier: CA1307543751
Gene: SLC25A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855925C= , CM000664.2:g.171855925C= GRCh38
NC_000002.11:g.172712435C= , CM000664.1:g.172712435C= GRCh37
NC_000002.10:g.172420681C= NCBI36
NG_011781.1:g.43379G=
NG_011781.2:g.43379G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.234G= MANE Select ENSP00000388658.2:p.Leu78=
ENST00000263812.8:c.210-11417G= ENSP00000263812.4:n.210-11417G=
ENST00000422440.6:c.234G= ENSP00000388658.2:p.Leu78=
ENST00000426896.5:c.234G= ENSP00000413968.1:p.Leu78=
ENST00000472748.5:n.399G=
ENST00000475360.6:c.222G= ENSP00000437845.1:p.Leu74=
ENST00000484227.5:n.432G=
NM_003705.4:c.234G= NP_003696.2:p.Leu78=
NR_047549.1:n.302-11417G=
XM_005246923.3:c.183G= XP_005246980.1:p.Leu61=
XM_011512069.1:c.234G= XP_011510371.1:p.Leu78=
XM_011512070.1:c.-144G= XP_011510372.1:n.-144G=
XM_011512070.3:c.-144G= XP_011510372.1:n.-144G=
NM_003705.5:c.234G= MANE Select NP_003696.2:p.Leu78=
NR_047549.2:n.240-11417G=