Canonical Allele Identifier: CA349632372

Gene: SLC25A12

Linked Data

• ClinVar Variation Id: 647405
• ClinVar RCV Id: RCV000801910
• dbSNP Id: rs1573986066
• gnomAD v4: 2-171855890-A-G
• MyVariant Identifiers: chr2:g.172712400A>G (hg19) ; chr2:g.171855890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855890A>G , CM000664.2:g.171855890A>G	GRCh38
NC_000002.11:g.172712400A>G , CM000664.1:g.172712400A>G	GRCh37
NC_000002.10:g.172420646A>G	NCBI36
NG_011781.1:g.43414T>C
NG_011781.2:g.43414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.269T>C MANE Select	ENSP00000388658.2:p.Met90Thr
ENST00000263812.8:c.210-11382T>C	ENSP00000263812.4:n.210-11382T>C
ENST00000422440.6:c.269T>C	ENSP00000388658.2:p.Met90Thr
ENST00000426896.5:c.269T>C	ENSP00000413968.1:p.Met90Thr
ENST00000472748.5:n.434T>C
ENST00000475360.6:c.257T>C	ENSP00000437845.1:p.Met86Thr
ENST00000484227.5:n.467T>C
NM_003705.4:c.269T>C	NP_003696.2:p.Met90Thr
NR_047549.1:n.302-11382T>C
XM_005246923.3:c.218T>C	XP_005246980.1:p.Met73Thr
XM_011512069.1:c.269T>C	XP_011510371.1:p.Met90Thr
XM_011512070.1:c.-109T>C	XP_011510372.1:n.-109T>C
XM_011512070.3:c.-109T>C	XP_011510372.1:n.-109T>C
NM_003705.5:c.269T>C MANE Select	NP_003696.2:p.Met90Thr
NR_047549.2:n.240-11382T>C