Canonical Allele Identifier: CA760718849

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1466038015
• gnomAD v4: 2-171855804-T-C
• MyVariant Identifiers: chr2:g.172712314T>C (hg19) ; chr2:g.171855804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855804T>C , CM000664.2:g.171855804T>C	GRCh38
NC_000002.11:g.172712314T>C , CM000664.1:g.172712314T>C	GRCh37
NC_000002.10:g.172420560T>C	NCBI36
NG_011781.1:g.43500A>G
NG_011781.2:g.43500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+30A>G MANE Select	ENSP00000388658.2:n.325+30A>G
ENST00000263812.8:c.210-11296A>G	ENSP00000263812.4:n.210-11296A>G
ENST00000422440.6:c.325+30A>G	ENSP00000388658.2:n.325+30A>G
ENST00000426896.5:c.325+30A>G	ENSP00000413968.1:n.325+30A>G
ENST00000472748.5:n.490+30A>G
ENST00000475360.6:c.313+30A>G	ENSP00000437845.1:n.313+30A>G
ENST00000484227.5:n.553A>G
NM_003705.4:c.325+30A>G	NP_003696.2:n.325+30A>G
NR_047549.1:n.302-11296A>G
XM_005246923.3:c.274+30A>G	XP_005246980.1:n.274+30A>G
XM_011512069.1:c.325+30A>G	XP_011510371.1:n.325+30A>G
XM_011512070.1:c.-53+30A>G	XP_011510372.1:n.-53+30A>G
XM_011512070.3:c.-53+30A>G	XP_011510372.1:n.-53+30A>G
NM_003705.5:c.325+30A>G MANE Select	NP_003696.2:n.325+30A>G
NR_047549.2:n.240-11296A>G