Canonical Allele Identifier: CA349632745
Gene: SLC25A12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855929A>T , CM000664.2:g.171855929A>T GRCh38
NC_000002.11:g.172712439A>T , CM000664.1:g.172712439A>T GRCh37
NC_000002.10:g.172420685A>T NCBI36
NG_011781.1:g.43375T>A
NG_011781.2:g.43375T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.230T>A MANE Select ENSP00000388658.2:p.Phe77Tyr
ENST00000263812.8:c.210-11421T>A ENSP00000263812.4:n.210-11421T>A
ENST00000422440.6:c.230T>A ENSP00000388658.2:p.Phe77Tyr
ENST00000426896.5:c.230T>A ENSP00000413968.1:p.Phe77Tyr
ENST00000464063.1:n.551T>A
ENST00000472748.5:n.395T>A
ENST00000475360.6:c.218T>A ENSP00000437845.1:p.Phe73Tyr
ENST00000484227.5:n.428T>A
NM_003705.4:c.230T>A NP_003696.2:p.Phe77Tyr
NR_047549.1:n.302-11421T>A
XM_005246923.3:c.179T>A XP_005246980.1:p.Phe60Tyr
XM_011512069.1:c.230T>A XP_011510371.1:p.Phe77Tyr
XM_011512070.1:c.-148T>A XP_011510372.1:n.-148T>A
XM_011512070.3:c.-148T>A XP_011510372.1:n.-148T>A
NM_003705.5:c.230T>A MANE Select NP_003696.2:p.Phe77Tyr
NR_047549.2:n.240-11421T>A