Canonical Allele Identifier: CA245297375

Gene: TMEM132C

Linked Data

• dbSNP Id: rs553870733
• gnomAD v2: 12-129186282-T-C
• gnomAD v3: 12-128701737-T-C
• gnomAD v4: 12-128701737-T-C
• MyVariant Identifiers: chr12:g.129186282T>C (hg19) ; chr12:g.128701737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128701737T>C , CM000674.2:g.128701737T>C	GRCh38
NC_000012.11:g.129186282T>C , CM000674.1:g.129186282T>C	GRCh37
NC_000012.10:g.127752235T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435159.3:c.2122-3353T>C MANE Select	ENSP00000410852.2:n.2122-3353T>C
ENST00000435159.2:c.2122-3353T>C	ENSP00000410852.2:n.2122-3353T>C
NM_001136103.2:c.2122-3353T>C	NP_001129575.2:n.2122-3353T>C
XM_011538998.1:c.2062-3353T>C	XP_011537300.1:n.2062-3353T>C
XM_011538998.2:c.2062-3353T>C	XP_011537300.1:n.2062-3353T>C
XR_001748922.1:n.2355-2915T>C
NM_001136103.3:c.2122-3353T>C MANE Select	NP_001129575.2:n.2122-3353T>C
NM_001387058.1:c.2062-3353T>C	NP_001373987.1:n.2062-3353T>C