Canonical Allele Identifier: CA245297371
Gene: TMEM132C HGNC NCBI

Linked Data

dbSNP Id: rs1013942330
gnomAD v2: 12-129186253-GC-G
gnomAD v3: 12-128701708-GC-G
gnomAD v4: 12-128701708-GC-G
MyVariant Identifiers: chr12:g.129186254del (hg19) chr12:g.128701709del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128701710del , CM000674.2:g.128701710del GRCh38
NC_000012.11:g.129186255del , CM000674.1:g.129186255del GRCh37
NC_000012.10:g.127752208del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000435159.3:c.2122-3380del MANE Select ENSP00000410852.2:n.2122-3380del
ENST00000435159.2:c.2122-3380del ENSP00000410852.2:n.2122-3380del
NM_001136103.2:c.2122-3380del NP_001129575.2:n.2122-3380del
XM_011538998.1:c.2062-3380del XP_011537300.1:n.2062-3380del
XM_011538998.2:c.2062-3380del XP_011537300.1:n.2062-3380del
XR_001748922.1:n.2355-2942del
NM_001136103.3:c.2122-3380del MANE Select NP_001129575.2:n.2122-3380del
NM_001387058.1:c.2062-3380del NP_001373987.1:n.2062-3380del
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