Canonical Allele Identifier: CA2580064509

Gene: SLC25A12

Linked Data

• ClinVar Variation Id: 2283010
• ClinVar RCV Id: RCV002840476

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855907_171855913del , CM000664.2:g.171855907_171855913del	GRCh38
NC_000002.11:g.172712417_172712423del , CM000664.1:g.172712417_172712423del	GRCh37
NC_000002.10:g.172420663_172420669del	NCBI36
NG_011781.1:g.43394_43400del
NG_011781.2:g.43394_43400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.249_255del MANE Select	ENSP00000388658.2:p.Cys85GlnfsTer6
ENST00000263812.8:c.210-11402_210-11396del	ENSP00000263812.4:n.210-11402_210-11396del
ENST00000422440.6:c.249_255del	ENSP00000388658.2:p.Cys85GlnfsTer6
ENST00000426896.5:c.249_255del	ENSP00000413968.1:p.Cys85GlnfsTer6
ENST00000472748.5:n.414_420del
ENST00000475360.6:c.237_243del	ENSP00000437845.1:p.Cys81GlnfsTer6
ENST00000484227.5:n.447_453del
NM_003705.4:c.249_255del	NP_003696.2:p.Cys85GlnfsTer6
NR_047549.1:n.302-11402_302-11396del
XM_005246923.3:c.198_204del	XP_005246980.1:p.Cys68GlnfsTer6
XM_011512069.1:c.249_255del	XP_011510371.1:p.Cys85GlnfsTer6
XM_011512070.1:c.-129_-123del	XP_011510372.1:n.-129_-123del
XM_011512070.3:c.-129_-123del	XP_011510372.1:n.-129_-123del
NM_003705.5:c.249_255del MANE Select	NP_003696.2:p.Cys85GlnfsTer6
NR_047549.2:n.240-11402_240-11396del