Canonical Allele Identifier: CA349632489
Gene: SLC25A12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855903C>A , CM000664.2:g.171855903C>A GRCh38
NC_000002.11:g.172712413C>A , CM000664.1:g.172712413C>A GRCh37
NC_000002.10:g.172420659C>A NCBI36
NG_011781.1:g.43401G>T
NG_011781.2:g.43401G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000422440.7:c.256G>T MANE Select ENSP00000388658.2:p.Ala86Ser
ENST00000263812.8:c.210-11395G>T ENSP00000263812.4:n.210-11395G>T
ENST00000422440.6:c.256G>T ENSP00000388658.2:p.Ala86Ser
ENST00000426896.5:c.256G>T ENSP00000413968.1:p.Ala86Ser
ENST00000472748.5:n.421G>T
ENST00000475360.6:c.244G>T ENSP00000437845.1:p.Ala82Ser
ENST00000484227.5:n.454G>T
NM_003705.4:c.256G>T NP_003696.2:p.Ala86Ser
NR_047549.1:n.302-11395G>T
XM_005246923.3:c.205G>T XP_005246980.1:p.Ala69Ser
XM_011512069.1:c.256G>T XP_011510371.1:p.Ala86Ser
XM_011512070.1:c.-122G>T XP_011510372.1:n.-122G>T
XM_011512070.3:c.-122G>T XP_011510372.1:n.-122G>T
NM_003705.5:c.256G>T MANE Select NP_003696.2:p.Ala86Ser
NR_047549.2:n.240-11395G>T