Canonical Allele Identifier: CA1307543598

Gene: SLC25A12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855513_171855516delinsATGT , CM000664.2:g.171855513_171855516delinsATGT	GRCh38
NC_000002.11:g.172712023_172712026delinsATGT , CM000664.1:g.172712023_172712026delinsATGT	GRCh37
NC_000002.10:g.172420269_172420272delinsATGT	NCBI36
NG_011781.1:g.43788_43791delinsACAT
NG_011781.2:g.43788_43791delinsACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+318_325+321delinsACAT MANE Select	ENSP00000388658.2:n.325+318_325+321delinsACAT
ENST00000263812.8:c.210-11008_210-11005delinsACAT	ENSP00000263812.4:n.210-11008_210-11005delinsACAT
ENST00000422440.6:c.325+318_325+321delinsACAT	ENSP00000388658.2:n.325+318_325+321delinsACAT
ENST00000426896.5:c.325+318_325+321delinsACAT	ENSP00000413968.1:n.325+318_325+321delinsACAT
ENST00000472748.5:n.490+318_490+321delinsACAT
ENST00000475360.6:c.313+318_313+321delinsACAT	ENSP00000437845.1:n.313+318_313+321delinsACAT
NM_003705.4:c.325+318_325+321delinsACAT	NP_003696.2:n.325+318_325+321delinsACAT
NR_047549.1:n.302-11008_302-11005delinsACAT
XM_005246923.3:c.274+318_274+321delinsACAT	XP_005246980.1:n.274+318_274+321delinsACAT
XM_011512069.1:c.325+318_325+321delinsACAT	XP_011510371.1:n.325+318_325+321delinsACAT
XM_011512070.1:c.-53+318_-53+321delinsACAT	XP_011510372.1:n.-53+318_-53+321delinsACAT
XM_011512070.3:c.-53+318_-53+321delinsACAT	XP_011510372.1:n.-53+318_-53+321delinsACAT
NM_003705.5:c.325+318_325+321delinsACAT MANE Select	NP_003696.2:n.325+318_325+321delinsACAT
NR_047549.2:n.240-11008_240-11005delinsACAT