Canonical Allele Identifier: CA1966433

Gene: SLC25A12

Linked Data

• ClinVar Variation Id: 1958811
• ClinVar RCV Id: RCV002725653
• dbSNP Id: rs755293232
• ExAC: 2:172712401 T / C
• gnomAD v2: 2-172712401-T-C
• gnomAD v4: 2-171855891-T-C
• MyVariant Identifiers: chr2:g.172712401T>C (hg19) ; chr2:g.171855891T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855891T>C , CM000664.2:g.171855891T>C	GRCh38
NC_000002.11:g.172712401T>C , CM000664.1:g.172712401T>C	GRCh37
NC_000002.10:g.172420647T>C	NCBI36
NG_011781.1:g.43413A>G
NG_011781.2:g.43413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.268A>G MANE Select	ENSP00000388658.2:p.Met90Val
ENST00000263812.8:c.210-11383A>G	ENSP00000263812.4:n.210-11383A>G
ENST00000422440.6:c.268A>G	ENSP00000388658.2:p.Met90Val
ENST00000426896.5:c.268A>G	ENSP00000413968.1:p.Met90Val
ENST00000472748.5:n.433A>G
ENST00000475360.6:c.256A>G	ENSP00000437845.1:p.Met86Val
ENST00000484227.5:n.466A>G
NM_003705.4:c.268A>G	NP_003696.2:p.Met90Val
NR_047549.1:n.302-11383A>G
XM_005246923.3:c.217A>G	XP_005246980.1:p.Met73Val
XM_011512069.1:c.268A>G	XP_011510371.1:p.Met90Val
XM_011512070.1:c.-110A>G	XP_011510372.1:n.-110A>G
XM_011512070.3:c.-110A>G	XP_011510372.1:n.-110A>G
NM_003705.5:c.268A>G MANE Select	NP_003696.2:p.Met90Val
NR_047549.2:n.240-11383A>G