Canonical Allele Identifier: CA1855120721

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821038A= , CM000671.2:g.72821038A=	GRCh38
NC_000009.11:g.75435954A= , CM000671.1:g.75435954A=	GRCh37
NC_000009.10:g.74625774A=	NCBI36
NG_008213.1:g.304238A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1960A= MANE Select	ENSP00000297784.6:p.Met654=
ENST00000644967.1:c.*400A=	ENSP00000496159.1:n.*400A=
ENST00000645053.1:c.1258-5831A=	ENSP00000493838.1:n.1258-5831A=
ENST00000645208.2:c.1960A=	ENSP00000494684.1:p.Met654=
ENST00000645773.1:c.1834A=	ENSP00000493698.1:p.Met612=
ENST00000645787.1:n.2103A=
ENST00000646619.1:c.1522A=	ENSP00000493726.1:p.Met508=
ENST00000651183.1:c.1522A=	ENSP00000498723.1:p.Met508=
ENST00000297784.9:c.1960A=	ENSP00000297784.5:p.Met654=
ENST00000340019.4:c.1960A=	ENSP00000341433.3:p.Met654=
ENST00000469455.1:n.441A=
ENST00000486417.5:n.858A=
NM_138691.2:c.1960A=	NP_619636.2:p.Met654=
XM_011518213.1:c.2548A=	XP_011516515.1:p.Met850=
XM_017014256.1:c.1963A=	XP_016869745.1:p.Met655=
NM_138691.3:c.1960A= MANE Select	NP_619636.2:p.Met654=