Canonical Allele Identifier: CA429841972
Gene: SLC25A12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172712411A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855901A>T , CM000664.2:g.171855901A>T GRCh38
NC_000002.11:g.172712411A>T , CM000664.1:g.172712411A>T GRCh37
NC_000002.10:g.172420657A>T NCBI36
NG_011781.1:g.43403T>A
NG_011781.2:g.43403T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.258T>A MANE Select ENSP00000388658.2:p.Ala86=
ENST00000263812.8:c.210-11393T>A ENSP00000263812.4:n.210-11393T>A
ENST00000422440.6:c.258T>A ENSP00000388658.2:p.Ala86=
ENST00000426896.5:c.258T>A ENSP00000413968.1:p.Ala86=
ENST00000472748.5:n.423T>A
ENST00000475360.6:c.246T>A ENSP00000437845.1:p.Ala82=
ENST00000484227.5:n.456T>A
NM_003705.4:c.258T>A NP_003696.2:p.Ala86=
NR_047549.1:n.302-11393T>A
XM_005246923.3:c.207T>A XP_005246980.1:p.Ala69=
XM_011512069.1:c.258T>A XP_011510371.1:p.Ala86=
XM_011512070.1:c.-120T>A XP_011510372.1:n.-120T>A
XM_011512070.3:c.-120T>A XP_011510372.1:n.-120T>A
NM_003705.5:c.258T>A MANE Select NP_003696.2:p.Ala86=
NR_047549.2:n.240-11393T>A