Canonical Allele Identifier: CA373724428

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2501855
• ClinVar RCV Id: RCV003228274
• dbSNP Id: rs1588038557
• MyVariant Identifiers: chr9:g.75315454A>G (hg19) ; chr9:g.72700538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700538A>G , CM000671.2:g.72700538A>G	GRCh38
NC_000009.11:g.75315454A>G , CM000671.1:g.75315454A>G	GRCh37
NC_000009.10:g.74505274A>G	NCBI36
NG_008213.1:g.183738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.257A>G MANE Select	ENSP00000297784.6:p.Glu86Gly
ENST00000644967.1:c.-77+5824A>G	ENSP00000496159.1:n.-77+5824A>G
ENST00000645053.1:c.-77+5824A>G	ENSP00000493838.1:n.-77+5824A>G
ENST00000645208.2:c.257A>G	ENSP00000494684.1:p.Glu86Gly
ENST00000645773.1:c.236+5824A>G	ENSP00000493698.1:n.236+5824A>G
ENST00000645787.1:n.297A>G
ENST00000646244.1:n.707A>G
ENST00000646619.1:c.-77+5824A>G	ENSP00000493726.1:n.-77+5824A>G
ENST00000650689.1:n.660+5824A>G
ENST00000651183.1:c.-77+5824A>G	ENSP00000498723.1:n.-77+5824A>G
ENST00000297784.9:c.257A>G	ENSP00000297784.5:p.Glu86Gly
ENST00000340019.4:c.257A>G	ENSP00000341433.3:p.Glu86Gly
NM_138691.2:c.257A>G	NP_619636.2:p.Glu86Gly
XM_011518213.1:c.845A>G	XP_011516515.1:p.Glu282Gly
XM_017014256.1:c.260A>G	XP_016869745.1:p.Glu87Gly
NM_138691.3:c.257A>G MANE Select	NP_619636.2:p.Glu86Gly