Canonical Allele Identifier: CA349632815

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172712445T>G (hg19) ; chr2:g.171855935T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855935T>G , CM000664.2:g.171855935T>G	GRCh38
NC_000002.11:g.172712445T>G , CM000664.1:g.172712445T>G	GRCh37
NC_000002.10:g.172420691T>G	NCBI36
NG_011781.1:g.43369A>C
NG_011781.2:g.43369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.224A>C MANE Select	ENSP00000388658.2:p.Gln75Pro
ENST00000263812.8:c.210-11427A>C	ENSP00000263812.4:n.210-11427A>C
ENST00000422440.6:c.224A>C	ENSP00000388658.2:p.Gln75Pro
ENST00000426896.5:c.224A>C	ENSP00000413968.1:p.Gln75Pro
ENST00000464063.1:n.545A>C
ENST00000472748.5:n.389A>C
ENST00000475360.6:c.212A>C	ENSP00000437845.1:p.Gln71Pro
ENST00000484227.5:n.422A>C
NM_003705.4:c.224A>C	NP_003696.2:p.Gln75Pro
NR_047549.1:n.302-11427A>C
XM_005246923.3:c.173A>C	XP_005246980.1:p.Gln58Pro
XM_011512069.1:c.224A>C	XP_011510371.1:p.Gln75Pro
XM_011512070.1:c.-154A>C	XP_011510372.1:n.-154A>C
XM_011512070.3:c.-154A>C	XP_011510372.1:n.-154A>C
NM_003705.5:c.224A>C MANE Select	NP_003696.2:p.Gln75Pro
NR_047549.2:n.240-11427A>C