Canonical Allele Identifier: CA2690288382

Gene: TMC1

Linked Data

• gnomAD v4: 9-72791824-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791824G>C , CM000671.2:g.72791824G>C	GRCh38
NC_000009.11:g.75406740G>C , CM000671.1:g.75406740G>C	GRCh37
NC_000009.10:g.74596560G>C	NCBI36
NG_008213.1:g.275024G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1225-62G>C MANE Select	ENSP00000297784.6:n.1225-62G>C
ENST00000644967.1:c.787-62G>C	ENSP00000496159.1:n.787-62G>C
ENST00000645053.1:c.787-62G>C	ENSP00000493838.1:n.787-62G>C
ENST00000645208.2:c.1225-62G>C	ENSP00000494684.1:n.1225-62G>C
ENST00000645773.1:c.1099-62G>C	ENSP00000493698.1:n.1099-62G>C
ENST00000645787.1:n.1265-62G>C
ENST00000646619.1:c.787-62G>C	ENSP00000493726.1:n.787-62G>C
ENST00000650689.1:n.1523-62G>C
ENST00000651183.1:c.787-62G>C	ENSP00000498723.1:n.787-62G>C
ENST00000297784.9:c.1225-62G>C	ENSP00000297784.5:n.1225-62G>C
ENST00000340019.4:c.1225-62G>C	ENSP00000341433.3:n.1225-62G>C
NM_138691.2:c.1225-62G>C	NP_619636.2:n.1225-62G>C
XM_011518213.1:c.1813-62G>C	XP_011516515.1:n.1813-62G>C
XM_017014256.1:c.1228-62G>C	XP_016869745.1:n.1228-62G>C
NM_138691.3:c.1225-62G>C MANE Select	NP_619636.2:n.1225-62G>C