Canonical Allele Identifier: CA60942254

Gene: SLC25A12

Linked Data

• dbSNP Id: rs199834217
• gnomAD v2: 2-172712024-TG-T
• gnomAD v3: 2-171855514-TG-T
• gnomAD v4: 2-171855514-TG-T
• MyVariant Identifiers: chr2:g.172712025del (hg19) ; chr2:g.171855515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855515del , CM000664.2:g.171855515del	GRCh38
NC_000002.11:g.172712025del , CM000664.1:g.172712025del	GRCh37
NC_000002.10:g.172420271del	NCBI36
NG_011781.1:g.43789del
NG_011781.2:g.43789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+319del MANE Select	ENSP00000388658.2:n.325+319del
ENST00000263812.8:c.210-11007del	ENSP00000263812.4:n.210-11007del
ENST00000422440.6:c.325+319del	ENSP00000388658.2:n.325+319del
ENST00000426896.5:c.325+319del	ENSP00000413968.1:n.325+319del
ENST00000472748.5:n.490+319del
ENST00000475360.6:c.313+319del	ENSP00000437845.1:n.313+319del
NM_003705.4:c.325+319del	NP_003696.2:n.325+319del
NR_047549.1:n.302-11007del
XM_005246923.3:c.274+319del	XP_005246980.1:n.274+319del
XM_011512069.1:c.325+319del	XP_011510371.1:n.325+319del
XM_011512070.1:c.-53+319del	XP_011510372.1:n.-53+319del
XM_011512070.3:c.-53+319del	XP_011510372.1:n.-53+319del
NM_003705.5:c.325+319del MANE Select	NP_003696.2:n.325+319del
NR_047549.2:n.240-11007del