Canonical Allele Identifier: CA349632550

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172712419A>C (hg19) ; chr2:g.171855909A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855909A>C , CM000664.2:g.171855909A>C	GRCh38
NC_000002.11:g.172712419A>C , CM000664.1:g.172712419A>C	GRCh37
NC_000002.10:g.172420665A>C	NCBI36
NG_011781.1:g.43395T>G
NG_011781.2:g.43395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.250T>G MANE Select	ENSP00000388658.2:p.Leu84Val
ENST00000263812.8:c.210-11401T>G	ENSP00000263812.4:n.210-11401T>G
ENST00000422440.6:c.250T>G	ENSP00000388658.2:p.Leu84Val
ENST00000426896.5:c.250T>G	ENSP00000413968.1:p.Leu84Val
ENST00000472748.5:n.415T>G
ENST00000475360.6:c.238T>G	ENSP00000437845.1:p.Leu80Val
ENST00000484227.5:n.448T>G
NM_003705.4:c.250T>G	NP_003696.2:p.Leu84Val
NR_047549.1:n.302-11401T>G
XM_005246923.3:c.199T>G	XP_005246980.1:p.Leu67Val
XM_011512069.1:c.250T>G	XP_011510371.1:p.Leu84Val
XM_011512070.1:c.-128T>G	XP_011510372.1:n.-128T>G
XM_011512070.3:c.-128T>G	XP_011510372.1:n.-128T>G
NM_003705.5:c.250T>G MANE Select	NP_003696.2:p.Leu84Val
NR_047549.2:n.240-11401T>G