Canonical Allele Identifier: CA1855065502

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694619T= , CM000671.2:g.72694619T=	GRCh38
NC_000009.11:g.75309535T= , CM000671.1:g.75309535T=	GRCh37
NC_000009.10:g.74499355T=	NCBI36
NG_008213.1:g.177819T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.141T= MANE Select	ENSP00000297784.6:p.Asp47=
ENST00000644967.1:c.-172T=	ENSP00000496159.1:n.-172T=
ENST00000645053.1:c.-172T=	ENSP00000493838.1:n.-172T=
ENST00000645208.2:c.141T=	ENSP00000494684.1:p.Asp47=
ENST00000645773.1:c.141T=	ENSP00000493698.1:p.Asp47=
ENST00000645787.1:n.181T=
ENST00000646244.1:n.591T=
ENST00000646619.1:c.-172T=	ENSP00000493726.1:n.-172T=
ENST00000650689.1:n.565T=
ENST00000651183.1:c.-172T=	ENSP00000498723.1:n.-172T=
ENST00000297784.9:c.141T=	ENSP00000297784.5:p.Asp47=
ENST00000340019.4:c.141T=	ENSP00000341433.3:p.Asp47=
NM_138691.2:c.141T=	NP_619636.2:p.Asp47=
XM_011518213.1:c.729T=	XP_011516515.1:p.Asp243=
XM_017014256.1:c.144T=	XP_016869745.1:p.Asp48=
NM_138691.3:c.141T= MANE Select	NP_619636.2:p.Asp47=