Canonical Allele Identifier: CA1966422

Gene: SLC25A12

Linked Data

• dbSNP Id: rs774264225
• ExAC: 2:172712319 A / C
• gnomAD v2: 2-172712319-A-C
• gnomAD v3: 2-171855809-A-C
• gnomAD v4: 2-171855809-A-C
• MyVariant Identifiers: chr2:g.172712319A>C (hg19) ; chr2:g.171855809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855809A>C , CM000664.2:g.171855809A>C	GRCh38
NC_000002.11:g.172712319A>C , CM000664.1:g.172712319A>C	GRCh37
NC_000002.10:g.172420565A>C	NCBI36
NG_011781.1:g.43495T>G
NG_011781.2:g.43495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+25T>G MANE Select	ENSP00000388658.2:n.325+25T>G
ENST00000263812.8:c.210-11301T>G	ENSP00000263812.4:n.210-11301T>G
ENST00000422440.6:c.325+25T>G	ENSP00000388658.2:n.325+25T>G
ENST00000426896.5:c.325+25T>G	ENSP00000413968.1:n.325+25T>G
ENST00000472748.5:n.490+25T>G
ENST00000475360.6:c.313+25T>G	ENSP00000437845.1:n.313+25T>G
ENST00000484227.5:n.548T>G
NM_003705.4:c.325+25T>G	NP_003696.2:n.325+25T>G
NR_047549.1:n.302-11301T>G
XM_005246923.3:c.274+25T>G	XP_005246980.1:n.274+25T>G
XM_011512069.1:c.325+25T>G	XP_011510371.1:n.325+25T>G
XM_011512070.1:c.-53+25T>G	XP_011510372.1:n.-53+25T>G
XM_011512070.3:c.-53+25T>G	XP_011510372.1:n.-53+25T>G
NM_003705.5:c.325+25T>G MANE Select	NP_003696.2:n.325+25T>G
NR_047549.2:n.240-11301T>G