Canonical Allele Identifier: CA349632523

Gene: SLC25A12

Linked Data

• ClinVar Variation Id: 2312479
• ClinVar RCV Id: RCV002887760
• dbSNP Id: rs1482055530
• gnomAD v2: 2-172712415-C-T
• COSMIC: COSM1009558
• MyVariant Identifiers: chr2:g.172712415C>T (hg19) ; chr2:g.171855905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855905C>T , CM000664.2:g.171855905C>T	GRCh38
NC_000002.11:g.172712415C>T , CM000664.1:g.172712415C>T	GRCh37
NC_000002.10:g.172420661C>T	NCBI36
NG_011781.1:g.43399G>A
NG_011781.2:g.43399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.254G>A MANE Select	ENSP00000388658.2:p.Cys85Tyr
ENST00000263812.8:c.210-11397G>A	ENSP00000263812.4:n.210-11397G>A
ENST00000422440.6:c.254G>A	ENSP00000388658.2:p.Cys85Tyr
ENST00000426896.5:c.254G>A	ENSP00000413968.1:p.Cys85Tyr
ENST00000472748.5:n.419G>A
ENST00000475360.6:c.242G>A	ENSP00000437845.1:p.Cys81Tyr
ENST00000484227.5:n.452G>A
NM_003705.4:c.254G>A	NP_003696.2:p.Cys85Tyr
NR_047549.1:n.302-11397G>A
XM_005246923.3:c.203G>A	XP_005246980.1:p.Cys68Tyr
XM_011512069.1:c.254G>A	XP_011510371.1:p.Cys85Tyr
XM_011512070.1:c.-124G>A	XP_011510372.1:n.-124G>A
XM_011512070.3:c.-124G>A	XP_011510372.1:n.-124G>A
NM_003705.5:c.254G>A MANE Select	NP_003696.2:p.Cys85Tyr
NR_047549.2:n.240-11397G>A