Canonical Allele Identifier: CA760718730

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1191510239
• gnomAD v3: 2-171855513-ATGT-A
• gnomAD v4: 2-171855513-ATGT-A
• MyVariant Identifiers: chr2:g.172712024_172712026del (hg19) ; chr2:g.171855514_171855516del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855518_171855520del , CM000664.2:g.171855518_171855520del	GRCh38
NC_000002.11:g.172712028_172712030del , CM000664.1:g.172712028_172712030del	GRCh37
NC_000002.10:g.172420274_172420276del	NCBI36
NG_011781.1:g.43788_43790del
NG_011781.2:g.43788_43790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+318_325+320del MANE Select	ENSP00000388658.2:n.325+318_325+320del
ENST00000263812.8:c.210-11008_210-11006del	ENSP00000263812.4:n.210-11008_210-11006del
ENST00000422440.6:c.325+318_325+320del	ENSP00000388658.2:n.325+318_325+320del
ENST00000426896.5:c.325+318_325+320del	ENSP00000413968.1:n.325+318_325+320del
ENST00000472748.5:n.490+318_490+320del
ENST00000475360.6:c.313+318_313+320del	ENSP00000437845.1:n.313+318_313+320del
NM_003705.4:c.325+318_325+320del	NP_003696.2:n.325+318_325+320del
NR_047549.1:n.302-11008_302-11006del
XM_005246923.3:c.274+318_274+320del	XP_005246980.1:n.274+318_274+320del
XM_011512069.1:c.325+318_325+320del	XP_011510371.1:n.325+318_325+320del
XM_011512070.1:c.-53+318_-53+320del	XP_011510372.1:n.-53+318_-53+320del
XM_011512070.3:c.-53+318_-53+320del	XP_011510372.1:n.-53+318_-53+320del
NM_003705.5:c.325+318_325+320del MANE Select	NP_003696.2:n.325+318_325+320del
NR_047549.2:n.240-11008_240-11006del