Canonical Allele Identifier: CA349631932

Gene: SLC25A12

Linked Data

• gnomAD v4: 2-171855840-T-A
• MyVariant Identifiers: chr2:g.172712350T>A (hg19) ; chr2:g.171855840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855840T>A , CM000664.2:g.171855840T>A	GRCh38
NC_000002.11:g.172712350T>A , CM000664.1:g.172712350T>A	GRCh37
NC_000002.10:g.172420596T>A	NCBI36
NG_011781.1:g.43464A>T
NG_011781.2:g.43464A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.319A>T MANE Select	ENSP00000388658.2:p.Thr107Ser
ENST00000263812.8:c.210-11332A>T	ENSP00000263812.4:n.210-11332A>T
ENST00000422440.6:c.319A>T	ENSP00000388658.2:p.Thr107Ser
ENST00000426896.5:c.319A>T	ENSP00000413968.1:p.Thr107Ser
ENST00000472748.5:n.484A>T
ENST00000475360.6:c.307A>T	ENSP00000437845.1:p.Thr103Ser
ENST00000484227.5:n.517A>T
NM_003705.4:c.319A>T	NP_003696.2:p.Thr107Ser
NR_047549.1:n.302-11332A>T
XM_005246923.3:c.268A>T	XP_005246980.1:p.Thr90Ser
XM_011512069.1:c.319A>T	XP_011510371.1:p.Thr107Ser
XM_011512070.1:c.-59A>T	XP_011510372.1:n.-59A>T
XM_011512070.3:c.-59A>T	XP_011510372.1:n.-59A>T
NM_003705.5:c.319A>T MANE Select	NP_003696.2:p.Thr107Ser
NR_047549.2:n.240-11332A>T