Canonical Allele Identifier: CA429842065

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1558933117
• gnomAD v4: 2-171855928-A-G
• MyVariant Identifiers: chr2:g.172712438A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855928A>G , CM000664.2:g.171855928A>G	GRCh38
NC_000002.11:g.172712438A>G , CM000664.1:g.172712438A>G	GRCh37
NC_000002.10:g.172420684A>G	NCBI36
NG_011781.1:g.43376T>C
NG_011781.2:g.43376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.231T>C MANE Select	ENSP00000388658.2:p.Phe77=
ENST00000263812.8:c.210-11420T>C	ENSP00000263812.4:n.210-11420T>C
ENST00000422440.6:c.231T>C	ENSP00000388658.2:p.Phe77=
ENST00000426896.5:c.231T>C	ENSP00000413968.1:p.Phe77=
ENST00000464063.1:n.552T>C
ENST00000472748.5:n.396T>C
ENST00000475360.6:c.219T>C	ENSP00000437845.1:p.Phe73=
ENST00000484227.5:n.429T>C
NM_003705.4:c.231T>C	NP_003696.2:p.Phe77=
NR_047549.1:n.302-11420T>C
XM_005246923.3:c.180T>C	XP_005246980.1:p.Phe60=
XM_011512069.1:c.231T>C	XP_011510371.1:p.Phe77=
XM_011512070.1:c.-147T>C	XP_011510372.1:n.-147T>C
XM_011512070.3:c.-147T>C	XP_011510372.1:n.-147T>C
NM_003705.5:c.231T>C MANE Select	NP_003696.2:p.Phe77=
NR_047549.2:n.240-11420T>C