Canonical Allele Identifier: CA2577157805

Gene: SLC25A12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855787G>T , CM000664.2:g.171855787G>T	GRCh38
NC_000002.11:g.172712297G>T , CM000664.1:g.172712297G>T	GRCh37
NC_000002.10:g.172420543G>T	NCBI36
NG_011781.1:g.43517C>A
NG_011781.2:g.43517C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000422440.7:c.325+47C>A MANE Select	ENSP00000388658.2:n.325+47C>A
ENST00000263812.8:c.210-11279C>A	ENSP00000263812.4:n.210-11279C>A
ENST00000422440.6:c.325+47C>A	ENSP00000388658.2:n.325+47C>A
ENST00000426896.5:c.325+47C>A	ENSP00000413968.1:n.325+47C>A
ENST00000472748.5:n.490+47C>A
ENST00000475360.6:c.313+47C>A	ENSP00000437845.1:n.313+47C>A
NM_003705.4:c.325+47C>A	NP_003696.2:n.325+47C>A
NR_047549.1:n.302-11279C>A
XM_005246923.3:c.274+47C>A	XP_005246980.1:n.274+47C>A
XM_011512069.1:c.325+47C>A	XP_011510371.1:n.325+47C>A
XM_011512070.1:c.-53+47C>A	XP_011510372.1:n.-53+47C>A
XM_011512070.3:c.-53+47C>A	XP_011510372.1:n.-53+47C>A
NM_003705.5:c.325+47C>A MANE Select	NP_003696.2:n.325+47C>A
NR_047549.2:n.240-11279C>A