Canonical Allele Identifier: CA685280786
Gene: TMEM132D HGNC NCBI

Linked Data

dbSNP Id: rs1237456097
gnomAD v3: 12-129162139-G-A
gnomAD v4: 12-129162139-G-A
MyVariant Identifiers: chr12:g.129646684G>A (hg19) chr12:g.129162139G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.129162139G>A , CM000674.2:g.129162139G>A GRCh38
NC_000012.11:g.129646684G>A , CM000674.1:g.129646684G>A GRCh37
NC_000012.10:g.128212637G>A NCBI36
NG_052808.1:g.746529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000422113.7:c.1443+47381C>T MANE Select ENSP00000408581.2:n.1443+47381C>T
ENST00000422113.6:c.1443+47381C>T ENSP00000408581.2:n.1443+47381C>T
ENST00000619366.1:c.1383+47381C>T ENSP00000478824.1:n.1383+47381C>T
NM_133448.2:c.1443+47381C>T NP_597705.2:n.1443+47381C>T
XM_011537894.1:c.1296+47381C>T XP_011536196.1:n.1296+47381C>T
NM_133448.3:c.1443+47381C>T MANE Select NP_597705.2:n.1443+47381C>T
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