Canonical Allele Identifier: CA142075

Gene: TMC1

Linked Data

• ClinVar Variation Id: 47871
• ClinVar RCV Id: RCV000041141 ; RCV001168316 ; RCV001168317 ; RCV001588860
• dbSNP Id: rs397517840
• ExAC: 9:75315536 G / A
• gnomAD v2: 9-75315536-G-A
• gnomAD v3: 9-72700620-G-A
• gnomAD v4: 9-72700620-G-A
• MyVariant Identifiers: chr9:g.75315536G>A (hg19) ; chr9:g.72700620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700620G>A , CM000671.2:g.72700620G>A	GRCh38
NC_000009.11:g.75315536G>A , CM000671.1:g.75315536G>A	GRCh37
NC_000009.10:g.74505356G>A	NCBI36
NG_008213.1:g.183820G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.339G>A MANE Select	ENSP00000297784.6:p.Met113Ile
ENST00000644967.1:c.-77+5906G>A	ENSP00000496159.1:n.-77+5906G>A
ENST00000645053.1:c.-77+5906G>A	ENSP00000493838.1:n.-77+5906G>A
ENST00000645208.2:c.339G>A	ENSP00000494684.1:p.Met113Ile
ENST00000645773.1:c.236+5906G>A	ENSP00000493698.1:n.236+5906G>A
ENST00000645787.1:n.379G>A
ENST00000646244.1:n.789G>A
ENST00000646619.1:c.-77+5906G>A	ENSP00000493726.1:n.-77+5906G>A
ENST00000650689.1:n.660+5906G>A
ENST00000651183.1:c.-77+5906G>A	ENSP00000498723.1:n.-77+5906G>A
ENST00000297784.9:c.339G>A	ENSP00000297784.5:p.Met113Ile
ENST00000340019.4:c.339G>A	ENSP00000341433.3:p.Met113Ile
NM_138691.2:c.339G>A	NP_619636.2:p.Met113Ile
XM_011518213.1:c.927G>A	XP_011516515.1:p.Met309Ile
XM_017014256.1:c.342G>A	XP_016869745.1:p.Met114Ile
NM_138691.3:c.339G>A MANE Select	NP_619636.2:p.Met113Ile