Canonical Allele Identifier: CA5081594

Gene: TMC1

Linked Data

• dbSNP Id: rs574559814
• ExAC: 9:75309410 G / T
• gnomAD v2: 9-75309410-G-T
• gnomAD v3: 9-72694494-G-T
• gnomAD v4: 9-72694494-G-T
• MyVariant Identifiers: chr9:g.75309410G>T (hg19) ; chr9:g.72694494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694494G>T , CM000671.2:g.72694494G>T	GRCh38
NC_000009.11:g.75309410G>T , CM000671.1:g.75309410G>T	GRCh37
NC_000009.10:g.74499230G>T	NCBI36
NG_008213.1:g.177694G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.65-49G>T MANE Select	ENSP00000297784.6:n.65-49G>T
ENST00000644967.1:c.-248-49G>T	ENSP00000496159.1:n.-248-49G>T
ENST00000645053.1:c.-248-49G>T	ENSP00000493838.1:n.-248-49G>T
ENST00000645208.2:c.65-49G>T	ENSP00000494684.1:n.65-49G>T
ENST00000645773.1:c.65-49G>T	ENSP00000493698.1:n.65-49G>T
ENST00000645787.1:n.93-37G>T
ENST00000646244.1:n.515-49G>T
ENST00000646619.1:c.-248-49G>T	ENSP00000493726.1:n.-248-49G>T
ENST00000650689.1:n.489-49G>T
ENST00000651183.1:c.-248-49G>T	ENSP00000498723.1:n.-248-49G>T
ENST00000297784.9:c.65-49G>T	ENSP00000297784.5:n.65-49G>T
ENST00000340019.4:c.65-49G>T	ENSP00000341433.3:n.65-49G>T
NM_138691.2:c.65-49G>T	NP_619636.2:n.65-49G>T
XM_011518213.1:c.653-49G>T	XP_011516515.1:n.653-49G>T
XM_017014256.1:c.68-49G>T	XP_016869745.1:n.68-49G>T
NM_138691.3:c.65-49G>T MANE Select	NP_619636.2:n.65-49G>T