Canonical Allele Identifier: CA349632197

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172712381C>G (hg19) ; chr2:g.171855871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855871C>G , CM000664.2:g.171855871C>G	GRCh38
NC_000002.11:g.172712381C>G , CM000664.1:g.172712381C>G	GRCh37
NC_000002.10:g.172420627C>G	NCBI36
NG_011781.1:g.43433G>C
NG_011781.2:g.43433G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000422440.7:c.288G>C MANE Select	ENSP00000388658.2:p.Gln96His
ENST00000263812.8:c.210-11363G>C	ENSP00000263812.4:n.210-11363G>C
ENST00000422440.6:c.288G>C	ENSP00000388658.2:p.Gln96His
ENST00000426896.5:c.288G>C	ENSP00000413968.1:p.Gln96His
ENST00000472748.5:n.453G>C
ENST00000475360.6:c.276G>C	ENSP00000437845.1:p.Gln92His
ENST00000484227.5:n.486G>C
NM_003705.4:c.288G>C	NP_003696.2:p.Gln96His
NR_047549.1:n.302-11363G>C
XM_005246923.3:c.237G>C	XP_005246980.1:p.Gln79His
XM_011512069.1:c.288G>C	XP_011510371.1:p.Gln96His
XM_011512070.1:c.-90G>C	XP_011510372.1:n.-90G>C
XM_011512070.3:c.-90G>C	XP_011510372.1:n.-90G>C
NM_003705.5:c.288G>C MANE Select	NP_003696.2:p.Gln96His
NR_047549.2:n.240-11363G>C