Canonical Allele Identifier: CA373505775

Gene: TMC1

Linked Data

• dbSNP Id: rs1307556703
• gnomAD v3: 9-72791896-T-A
• gnomAD v4: 9-72791896-T-A
• MyVariant Identifiers: chr9:g.75406812T>A (hg19) ; chr9:g.72791896T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791896T>A , CM000671.2:g.72791896T>A	GRCh38
NC_000009.11:g.75406812T>A , CM000671.1:g.75406812T>A	GRCh37
NC_000009.10:g.74596632T>A	NCBI36
NG_008213.1:g.275096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1235T>A MANE Select	ENSP00000297784.6:p.Val412Asp
ENST00000644967.1:c.797T>A	ENSP00000496159.1:p.Val266Asp
ENST00000645053.1:c.797T>A	ENSP00000493838.1:p.Val266Asp
ENST00000645208.2:c.1235T>A	ENSP00000494684.1:p.Val412Asp
ENST00000645773.1:c.1109T>A	ENSP00000493698.1:p.Val370Asp
ENST00000645787.1:n.1275T>A
ENST00000646619.1:c.797T>A	ENSP00000493726.1:p.Val266Asp
ENST00000650689.1:n.1533T>A
ENST00000651183.1:c.797T>A	ENSP00000498723.1:p.Val266Asp
ENST00000297784.9:c.1235T>A	ENSP00000297784.5:p.Val412Asp
ENST00000340019.4:c.1235T>A	ENSP00000341433.3:p.Val412Asp
NM_138691.2:c.1235T>A	NP_619636.2:p.Val412Asp
XM_011518213.1:c.1823T>A	XP_011516515.1:p.Val608Asp
XM_017014256.1:c.1238T>A	XP_016869745.1:p.Val413Asp
NM_138691.3:c.1235T>A MANE Select	NP_619636.2:p.Val412Asp