Canonical Allele Identifier: CA8796659

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78134494A>T , CM000679.2:g.78134494A>T	GRCh38
NC_000017.10:g.76130575A>T , CM000679.1:g.76130575A>T	GRCh37
NC_000017.9:g.73642170A>T	NCBI36
NG_007879.1:g.2914T>A , LRG_118:g.2914T>A
NG_007881.1:g.8717A>T , LRG_119:g.8717A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.917A>T MANE Select	NP_689681.2:p.Asn306Ile
ENST00000318430.10:c.917A>T MANE Select	ENSP00000325561.4:p.Asn306Ile
NM_152468.4:c.917A>T , LRG_119t1:c.917A>T	NP_689681.2:p.Asn306Ile
ENST00000318430.9:c.917A>T	ENSP00000325561.4:p.Asn306Ile
ENST00000589691.1:c.248A>T	ENSP00000467482.1:p.Asn83Ile
ENST00000590184.2:n.620A>T
ENST00000698566.1:n.579A>T
ENST00000698567.1:n.579A>T
ENST00000698568.1:n.500A>T
ENST00000698569.1:n.367A>T
ENST00000698570.1:n.214A>T
XM_011524402.1:c.929A>T	XP_011522704.1:p.Asn310Ile
XM_011524403.1:c.917A>T	XP_011522705.1:p.Asn306Ile
XM_011524404.1:c.929A>T	XP_011522706.1:p.Asn310Ile
XM_011524405.1:c.815A>T	XP_011522707.1:p.Asn272Ile
XM_011524406.1:c.929A>T	XP_011522708.1:p.Asn310Ile
XM_011524407.1:c.260A>T	XP_011522709.1:p.Asn87Ile
XM_011524408.1:c.260A>T	XP_011522710.1:p.Asn87Ile
XM_011524409.1:c.929A>T	XP_011522711.1:p.Asn310Ile
XM_011524410.1:c.929A>T	XP_011522712.1:p.Asn310Ile
XM_011524411.1:c.929A>T	XP_011522713.1:p.Asn310Ile
XM_017024242.2:c.68A>T	XP_016879731.1:p.Asn23Ile
XM_017024243.1:c.248A>T	XP_016879732.1:p.Asn83Ile
XM_017024244.1:c.917A>T	XP_016879733.1:p.Asn306Ile
XM_024450617.1:c.929A>T	XP_024306385.1:p.Asn310Ile
XM_024450618.1:c.929A>T	XP_024306386.1:p.Asn310Ile
XM_024450619.1:c.917A>T	XP_024306387.1:p.Asn306Ile
XM_024450620.1:c.929A>T	XP_024306388.1:p.Asn310Ile
XM_024450621.1:c.929A>T	XP_024306389.1:p.Asn310Ile
XM_024450622.1:c.929A>T	XP_024306390.1:p.Asn310Ile
XM_024450623.1:c.929A>T	XP_024306391.1:p.Asn310Ile
XM_024450624.1:c.929A>T	XP_024306392.1:p.Asn310Ile
XM_024450625.1:c.929A>T	XP_024306393.1:p.Asn310Ile
XM_024450626.1:c.929A>T	XP_024306394.1:p.Asn310Ile
XM_024450627.1:c.929A>T	XP_024306395.1:p.Asn310Ile
XR_002957973.1:n.1010A>T
XR_002957974.1:n.1010A>T
XR_002957975.1:n.998A>T
XR_002957976.1:n.1010A>T
XR_002957977.1:n.998A>T
XR_002957978.1:n.1010A>T
XR_002957979.1:n.1010A>T
XR_934395.1:n.3238A>T
XR_934397.1:n.3238A>T
XR_934398.1:n.3238A>T
XR_934400.1:n.3238A>T