Canonical Allele Identifier: CA373723777

Gene: TMC1

Linked Data

• dbSNP Id: rs1826518755
• gnomAD v4: 9-72694612-C-G
• MyVariant Identifiers: chr9:g.75309528C>G (hg19) ; chr9:g.72694612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694612C>G , CM000671.2:g.72694612C>G	GRCh38
NC_000009.11:g.75309528C>G , CM000671.1:g.75309528C>G	GRCh37
NC_000009.10:g.74499348C>G	NCBI36
NG_008213.1:g.177812C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.134C>G MANE Select	ENSP00000297784.6:p.Thr45Ser
ENST00000644967.1:c.-179C>G	ENSP00000496159.1:n.-179C>G
ENST00000645053.1:c.-179C>G	ENSP00000493838.1:n.-179C>G
ENST00000645208.2:c.134C>G	ENSP00000494684.1:p.Thr45Ser
ENST00000645773.1:c.134C>G	ENSP00000493698.1:p.Thr45Ser
ENST00000645787.1:n.174C>G
ENST00000646244.1:n.584C>G
ENST00000646619.1:c.-179C>G	ENSP00000493726.1:n.-179C>G
ENST00000650689.1:n.558C>G
ENST00000651183.1:c.-179C>G	ENSP00000498723.1:n.-179C>G
ENST00000297784.9:c.134C>G	ENSP00000297784.5:p.Thr45Ser
ENST00000340019.4:c.134C>G	ENSP00000341433.3:p.Thr45Ser
NM_138691.2:c.134C>G	NP_619636.2:p.Thr45Ser
XM_011518213.1:c.722C>G	XP_011516515.1:p.Thr241Ser
XM_017014256.1:c.137C>G	XP_016869745.1:p.Thr46Ser
NM_138691.3:c.134C>G MANE Select	NP_619636.2:p.Thr45Ser