Canonical Allele Identifier: CA6874509

Gene: TMEM132C

Linked Data

• ClinVar Variation Id: 776778
• ClinVar RCV Id: RCV000957152
• dbSNP Id: rs12307622
• ExAC: 12:128899885 G / A
• gnomAD v2: 12-128899885-G-A
• gnomAD v3: 12-128415340-G-A
• gnomAD v4: 12-128415340-G-A
• MyVariant Identifiers: chr12:g.128899885G>A (hg19) ; chr12:g.128415340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128415340G>A , CM000674.2:g.128415340G>A	GRCh38
NC_000012.11:g.128899885G>A , CM000674.1:g.128899885G>A	GRCh37
NC_000012.10:g.127465838G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435159.3:c.694G>A MANE Select	ENSP00000410852.2:p.Val232Met
ENST00000435159.2:c.694G>A	ENSP00000410852.2:p.Val232Met
NM_001136103.2:c.694G>A	NP_001129575.2:p.Val232Met
XM_011538998.1:c.634G>A	XP_011537300.1:p.Val212Met
XM_011538998.2:c.634G>A	XP_011537300.1:p.Val212Met
XR_001748922.1:n.927G>A
NM_001136103.3:c.694G>A MANE Select	NP_001129575.2:p.Val232Met
NM_001387058.1:c.634G>A	NP_001373987.1:p.Val212Met