Canonical Allele Identifier: CA760719172

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1343667310
• MyVariant Identifiers: chr2:g.172712538A>C (hg19) ; chr2:g.171856028A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171856028A>C , CM000664.2:g.171856028A>C	GRCh38
NC_000002.11:g.172712538A>C , CM000664.1:g.172712538A>C	GRCh37
NC_000002.10:g.172420784A>C	NCBI36
NG_011781.1:g.43276T>G
NG_011781.2:g.43276T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.210-79T>G MANE Select	ENSP00000388658.2:n.210-79T>G
ENST00000263812.8:c.210-11520T>G	ENSP00000263812.4:n.210-11520T>G
ENST00000422440.6:c.210-79T>G	ENSP00000388658.2:n.210-79T>G
ENST00000426896.5:c.210-79T>G	ENSP00000413968.1:n.210-79T>G
ENST00000464063.1:n.531-79T>G
ENST00000472748.5:n.375-79T>G
ENST00000475360.6:c.198-79T>G	ENSP00000437845.1:n.198-79T>G
ENST00000484227.5:n.408-79T>G
NM_003705.4:c.210-79T>G	NP_003696.2:n.210-79T>G
NR_047549.1:n.302-11520T>G
XM_005246923.3:c.159-79T>G	XP_005246980.1:n.159-79T>G
XM_011512069.1:c.210-79T>G	XP_011510371.1:n.210-79T>G
XM_011512070.1:c.-168-79T>G	XP_011510372.1:n.-168-79T>G
XM_011512070.3:c.-168-79T>G	XP_011510372.1:n.-168-79T>G
NM_003705.5:c.210-79T>G MANE Select	NP_003696.2:n.210-79T>G
NR_047549.2:n.240-11520T>G