Canonical Allele Identifier: CA349632649
Gene: SLC25A12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855920A>G , CM000664.2:g.171855920A>G GRCh38
NC_000002.11:g.172712430A>G , CM000664.1:g.172712430A>G GRCh37
NC_000002.10:g.172420676A>G NCBI36
NG_011781.1:g.43384T>C
NG_011781.2:g.43384T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.239T>C MANE Select ENSP00000388658.2:p.Phe80Ser
ENST00000263812.8:c.210-11412T>C ENSP00000263812.4:n.210-11412T>C
ENST00000422440.6:c.239T>C ENSP00000388658.2:p.Phe80Ser
ENST00000426896.5:c.239T>C ENSP00000413968.1:p.Phe80Ser
ENST00000472748.5:n.404T>C
ENST00000475360.6:c.227T>C ENSP00000437845.1:p.Phe76Ser
ENST00000484227.5:n.437T>C
NM_003705.4:c.239T>C NP_003696.2:p.Phe80Ser
NR_047549.1:n.302-11412T>C
XM_005246923.3:c.188T>C XP_005246980.1:p.Phe63Ser
XM_011512069.1:c.239T>C XP_011510371.1:p.Phe80Ser
XM_011512070.1:c.-139T>C XP_011510372.1:n.-139T>C
XM_011512070.3:c.-139T>C XP_011510372.1:n.-139T>C
NM_003705.5:c.239T>C MANE Select NP_003696.2:p.Phe80Ser
NR_047549.2:n.240-11412T>C