Canonical Allele Identifier: CA1966431

Gene: SLC25A12

Linked Data

• dbSNP Id: rs766769589
• ExAC: 2:172712394 A / C
• gnomAD v2: 2-172712394-A-C
• gnomAD v4: 2-171855884-A-C
• MyVariant Identifiers: chr2:g.172712394A>C (hg19) ; chr2:g.171855884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855884A>C , CM000664.2:g.171855884A>C	GRCh38
NC_000002.11:g.172712394A>C , CM000664.1:g.172712394A>C	GRCh37
NC_000002.10:g.172420640A>C	NCBI36
NG_011781.1:g.43420T>G
NG_011781.2:g.43420T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.275T>G MANE Select	ENSP00000388658.2:p.Ile92Arg
ENST00000263812.8:c.210-11376T>G	ENSP00000263812.4:n.210-11376T>G
ENST00000422440.6:c.275T>G	ENSP00000388658.2:p.Ile92Arg
ENST00000426896.5:c.275T>G	ENSP00000413968.1:p.Ile92Arg
ENST00000472748.5:n.440T>G
ENST00000475360.6:c.263T>G	ENSP00000437845.1:p.Ile88Arg
ENST00000484227.5:n.473T>G
NM_003705.4:c.275T>G	NP_003696.2:p.Ile92Arg
NR_047549.1:n.302-11376T>G
XM_005246923.3:c.224T>G	XP_005246980.1:p.Ile75Arg
XM_011512069.1:c.275T>G	XP_011510371.1:p.Ile92Arg
XM_011512070.1:c.-103T>G	XP_011510372.1:n.-103T>G
XM_011512070.3:c.-103T>G	XP_011510372.1:n.-103T>G
NM_003705.5:c.275T>G MANE Select	NP_003696.2:p.Ile92Arg
NR_047549.2:n.240-11376T>G