Canonical Allele Identifier: CA760719189

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1171743667
• gnomAD v3: 2-171856131-AG-A
• gnomAD v4: 2-171856131-AG-A
• MyVariant Identifiers: chr2:g.172712642del (hg19) ; chr2:g.171856132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171856132del , CM000664.2:g.171856132del	GRCh38
NC_000002.11:g.172712642del , CM000664.1:g.172712642del	GRCh37
NC_000002.10:g.172420888del	NCBI36
NG_011781.1:g.43172del
NG_011781.2:g.43172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.210-183del MANE Select	ENSP00000388658.2:n.210-183del
ENST00000263812.8:c.210-11624del	ENSP00000263812.4:n.210-11624del
ENST00000422440.6:c.210-183del	ENSP00000388658.2:n.210-183del
ENST00000426896.5:c.210-183del	ENSP00000413968.1:n.210-183del
ENST00000464063.1:n.531-183del
ENST00000472748.5:n.375-183del
ENST00000475360.6:c.198-183del	ENSP00000437845.1:n.198-183del
ENST00000484227.5:n.408-183del
NM_003705.4:c.210-183del	NP_003696.2:n.210-183del
NR_047549.1:n.302-11624del
XM_005246923.3:c.159-183del	XP_005246980.1:n.159-183del
XM_011512069.1:c.210-183del	XP_011510371.1:n.210-183del
XM_011512070.1:c.-168-183del	XP_011510372.1:n.-168-183del
XM_011512070.3:c.-168-183del	XP_011510372.1:n.-168-183del
NM_003705.5:c.210-183del MANE Select	NP_003696.2:n.210-183del
NR_047549.2:n.240-11624del