Canonical Allele Identifier: CA429841891
Gene: SLC25A12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172712390C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855880C>A , CM000664.2:g.171855880C>A GRCh38
NC_000002.11:g.172712390C>A , CM000664.1:g.172712390C>A GRCh37
NC_000002.10:g.172420636C>A NCBI36
NG_011781.1:g.43424G>T
NG_011781.2:g.43424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.279G>T MANE Select ENSP00000388658.2:p.Val93=
ENST00000263812.8:c.210-11372G>T ENSP00000263812.4:n.210-11372G>T
ENST00000422440.6:c.279G>T ENSP00000388658.2:p.Val93=
ENST00000426896.5:c.279G>T ENSP00000413968.1:p.Val93=
ENST00000472748.5:n.444G>T
ENST00000475360.6:c.267G>T ENSP00000437845.1:p.Val89=
ENST00000484227.5:n.477G>T
NM_003705.4:c.279G>T NP_003696.2:p.Val93=
NR_047549.1:n.302-11372G>T
XM_005246923.3:c.228G>T XP_005246980.1:p.Val76=
XM_011512069.1:c.279G>T XP_011510371.1:p.Val93=
XM_011512070.1:c.-99G>T XP_011510372.1:n.-99G>T
XM_011512070.3:c.-99G>T XP_011510372.1:n.-99G>T
NM_003705.5:c.279G>T MANE Select NP_003696.2:p.Val93=
NR_047549.2:n.240-11372G>T