Canonical Allele Identifier: CA349632451

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172712409G>A (hg19) ; chr2:g.171855899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855899G>A , CM000664.2:g.171855899G>A	GRCh38
NC_000002.11:g.172712409G>A , CM000664.1:g.172712409G>A	GRCh37
NC_000002.10:g.172420655G>A	NCBI36
NG_011781.1:g.43405C>T
NG_011781.2:g.43405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.260C>T MANE Select	ENSP00000388658.2:p.Pro87Leu
ENST00000263812.8:c.210-11391C>T	ENSP00000263812.4:n.210-11391C>T
ENST00000422440.6:c.260C>T	ENSP00000388658.2:p.Pro87Leu
ENST00000426896.5:c.260C>T	ENSP00000413968.1:p.Pro87Leu
ENST00000472748.5:n.425C>T
ENST00000475360.6:c.248C>T	ENSP00000437845.1:p.Pro83Leu
ENST00000484227.5:n.458C>T
NM_003705.4:c.260C>T	NP_003696.2:p.Pro87Leu
NR_047549.1:n.302-11391C>T
XM_005246923.3:c.209C>T	XP_005246980.1:p.Pro70Leu
XM_011512069.1:c.260C>T	XP_011510371.1:p.Pro87Leu
XM_011512070.1:c.-118C>T	XP_011510372.1:n.-118C>T
XM_011512070.3:c.-118C>T	XP_011510372.1:n.-118C>T
NM_003705.5:c.260C>T MANE Select	NP_003696.2:p.Pro87Leu
NR_047549.2:n.240-11391C>T