Canonical Allele Identifier: CA1855107530

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791894G= , CM000671.2:g.72791894G=	GRCh38
NC_000009.11:g.75406810G= , CM000671.1:g.75406810G=	GRCh37
NC_000009.10:g.74596630G=	NCBI36
NG_008213.1:g.275094G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1233G= MANE Select	ENSP00000297784.6:p.Met411=
ENST00000644967.1:c.795G=	ENSP00000496159.1:p.Met265=
ENST00000645053.1:c.795G=	ENSP00000493838.1:p.Met265=
ENST00000645208.2:c.1233G=	ENSP00000494684.1:p.Met411=
ENST00000645773.1:c.1107G=	ENSP00000493698.1:p.Met369=
ENST00000645787.1:n.1273G=
ENST00000646619.1:c.795G=	ENSP00000493726.1:p.Met265=
ENST00000650689.1:n.1531G=
ENST00000651183.1:c.795G=	ENSP00000498723.1:p.Met265=
ENST00000297784.9:c.1233G=	ENSP00000297784.5:p.Met411=
ENST00000340019.4:c.1233G=	ENSP00000341433.3:p.Met411=
NM_138691.2:c.1233G=	NP_619636.2:p.Met411=
XM_011518213.1:c.1821G=	XP_011516515.1:p.Met607=
XM_017014256.1:c.1236G=	XP_016869745.1:p.Met412=
NM_138691.3:c.1233G= MANE Select	NP_619636.2:p.Met411=