Canonical Allele Identifier: CA193350337

Gene: TMC1

Linked Data

• dbSNP Id: rs1030083514
• MyVariant Identifiers: chr9:g.75315533G>T (hg19) ; chr9:g.72700617G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700617G>T , CM000671.2:g.72700617G>T	GRCh38
NC_000009.11:g.75315533G>T , CM000671.1:g.75315533G>T	GRCh37
NC_000009.10:g.74505353G>T	NCBI36
NG_008213.1:g.183817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.336G>T MANE Select	ENSP00000297784.6:p.Lys112Asn
ENST00000644967.1:c.-77+5903G>T	ENSP00000496159.1:n.-77+5903G>T
ENST00000645053.1:c.-77+5903G>T	ENSP00000493838.1:n.-77+5903G>T
ENST00000645208.2:c.336G>T	ENSP00000494684.1:p.Lys112Asn
ENST00000645773.1:c.236+5903G>T	ENSP00000493698.1:n.236+5903G>T
ENST00000645787.1:n.376G>T
ENST00000646244.1:n.786G>T
ENST00000646619.1:c.-77+5903G>T	ENSP00000493726.1:n.-77+5903G>T
ENST00000650689.1:n.660+5903G>T
ENST00000651183.1:c.-77+5903G>T	ENSP00000498723.1:n.-77+5903G>T
ENST00000297784.9:c.336G>T	ENSP00000297784.5:p.Lys112Asn
ENST00000340019.4:c.336G>T	ENSP00000341433.3:p.Lys112Asn
NM_138691.2:c.336G>T	NP_619636.2:p.Lys112Asn
XM_011518213.1:c.924G>T	XP_011516515.1:p.Lys308Asn
XM_017014256.1:c.339G>T	XP_016869745.1:p.Lys113Asn
NM_138691.3:c.336G>T MANE Select	NP_619636.2:p.Lys112Asn