Canonical Allele Identifier: CA1966421

Gene: SLC25A12

Linked Data

• dbSNP Id: rs770773250
• ExAC: 2:172712307 C / G
• gnomAD v2: 2-172712307-C-G
• gnomAD v3: 2-171855797-C-G
• gnomAD v4: 2-171855797-C-G
• MyVariant Identifiers: chr2:g.172712307C>G (hg19) ; chr2:g.171855797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855797C>G , CM000664.2:g.171855797C>G	GRCh38
NC_000002.11:g.172712307C>G , CM000664.1:g.172712307C>G	GRCh37
NC_000002.10:g.172420553C>G	NCBI36
NG_011781.1:g.43507G>C
NG_011781.2:g.43507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+37G>C MANE Select	ENSP00000388658.2:n.325+37G>C
ENST00000263812.8:c.210-11289G>C	ENSP00000263812.4:n.210-11289G>C
ENST00000422440.6:c.325+37G>C	ENSP00000388658.2:n.325+37G>C
ENST00000426896.5:c.325+37G>C	ENSP00000413968.1:n.325+37G>C
ENST00000472748.5:n.490+37G>C
ENST00000475360.6:c.313+37G>C	ENSP00000437845.1:n.313+37G>C
NM_003705.4:c.325+37G>C	NP_003696.2:n.325+37G>C
NR_047549.1:n.302-11289G>C
XM_005246923.3:c.274+37G>C	XP_005246980.1:n.274+37G>C
XM_011512069.1:c.325+37G>C	XP_011510371.1:n.325+37G>C
XM_011512070.1:c.-53+37G>C	XP_011510372.1:n.-53+37G>C
XM_011512070.3:c.-53+37G>C	XP_011510372.1:n.-53+37G>C
NM_003705.5:c.325+37G>C MANE Select	NP_003696.2:n.325+37G>C
NR_047549.2:n.240-11289G>C