Canonical Allele Identifier: CA373504940

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789234T>C , CM000671.2:g.72789234T>C	GRCh38
NC_000009.11:g.75404150T>C , CM000671.1:g.75404150T>C	GRCh37
NC_000009.10:g.74593970T>C	NCBI36
NG_008213.1:g.272434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1141T>C MANE Select	ENSP00000297784.6:p.Tyr381His
ENST00000644967.1:c.703T>C	ENSP00000496159.1:p.Tyr235His
ENST00000645053.1:c.703T>C	ENSP00000493838.1:p.Tyr235His
ENST00000645208.2:c.1141T>C	ENSP00000494684.1:p.Tyr381His
ENST00000645773.1:c.1015T>C	ENSP00000493698.1:p.Tyr339His
ENST00000645787.1:n.1181T>C
ENST00000646619.1:c.703T>C	ENSP00000493726.1:p.Tyr235His
ENST00000650689.1:n.1439T>C
ENST00000651183.1:c.703T>C	ENSP00000498723.1:p.Tyr235His
ENST00000297784.9:c.1141T>C	ENSP00000297784.5:p.Tyr381His
ENST00000340019.4:c.1141T>C	ENSP00000341433.3:p.Tyr381His
NM_138691.2:c.1141T>C	NP_619636.2:p.Tyr381His
XM_011518213.1:c.1729T>C	XP_011516515.1:p.Tyr577His
XM_017014256.1:c.1144T>C	XP_016869745.1:p.Tyr382His
NM_138691.3:c.1141T>C MANE Select	NP_619636.2:p.Tyr381His