Canonical Allele Identifier: CA429841989

Gene: SLC25A12

Linked Data

• ClinVar Variation Id: 2737342
• ClinVar RCV Id: RCV003560284
• dbSNP Id: rs1181356897
• gnomAD v2: 2-172712417-T-C
• gnomAD v4: 2-171855907-T-C
• MyVariant Identifiers: chr2:g.172712417T>C (hg19) ; chr2:g.171855907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855907T>C , CM000664.2:g.171855907T>C	GRCh38
NC_000002.11:g.172712417T>C , CM000664.1:g.172712417T>C	GRCh37
NC_000002.10:g.172420663T>C	NCBI36
NG_011781.1:g.43397A>G
NG_011781.2:g.43397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000422440.7:c.252A>G MANE Select	ENSP00000388658.2:p.Leu84=
ENST00000263812.8:c.210-11399A>G	ENSP00000263812.4:n.210-11399A>G
ENST00000422440.6:c.252A>G	ENSP00000388658.2:p.Leu84=
ENST00000426896.5:c.252A>G	ENSP00000413968.1:p.Leu84=
ENST00000472748.5:n.417A>G
ENST00000475360.6:c.240A>G	ENSP00000437845.1:p.Leu80=
ENST00000484227.5:n.450A>G
NM_003705.4:c.252A>G	NP_003696.2:p.Leu84=
NR_047549.1:n.302-11399A>G
XM_005246923.3:c.201A>G	XP_005246980.1:p.Leu67=
XM_011512069.1:c.252A>G	XP_011510371.1:p.Leu84=
XM_011512070.1:c.-126A>G	XP_011510372.1:n.-126A>G
XM_011512070.3:c.-126A>G	XP_011510372.1:n.-126A>G
NM_003705.5:c.252A>G MANE Select	NP_003696.2:p.Leu84=
NR_047549.2:n.240-11399A>G