Canonical Allele Identifier: CA8796719

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78134966G>A , CM000679.2:g.78134966G>A	GRCh38
NC_000017.10:g.76131047G>A , CM000679.1:g.76131047G>A	GRCh37
NC_000017.9:g.73642642G>A	NCBI36
NG_007879.1:g.2442C>T , LRG_118:g.2442C>T
NG_007881.1:g.9189G>A , LRG_119:g.9189G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.1084G>A MANE Select	NP_689681.2:p.Glu362Lys
ENST00000318430.10:c.1084G>A MANE Select	ENSP00000325561.4:p.Glu362Lys
NM_152468.4:c.1084G>A , LRG_119t1:c.1084G>A	NP_689681.2:p.Glu362Lys
ENST00000318430.9:c.1084G>A	ENSP00000325561.4:p.Glu362Lys
ENST00000589691.1:c.415G>A	ENSP00000467482.1:p.Glu139Lys
ENST00000590184.1:n.18G>A
ENST00000590184.2:n.787G>A
ENST00000591983.5:n.99G>A
ENST00000592399.5:n.99G>A
ENST00000698566.1:n.746G>A
ENST00000698567.1:n.746G>A
ENST00000698568.1:n.667G>A
ENST00000698569.1:n.541G>A
ENST00000698570.1:n.388G>A
ENST00000698571.1:n.146G>A
ENST00000698572.1:n.169G>A
XM_011524402.1:c.1096G>A	XP_011522704.1:p.Glu366Lys
XM_011524403.1:c.1084G>A	XP_011522705.1:p.Glu362Lys
XM_011524404.1:c.1096G>A	XP_011522706.1:p.Glu366Lys
XM_011524405.1:c.982G>A	XP_011522707.1:p.Glu328Lys
XM_011524406.1:c.1103G>A	XP_011522708.1:p.Gly368Glu
XM_011524407.1:c.427G>A	XP_011522709.1:p.Glu143Lys
XM_011524408.1:c.427G>A	XP_011522710.1:p.Glu143Lys
XM_011524409.1:c.1103G>A	XP_011522711.1:p.Gly368Glu
XM_011524410.1:c.1103G>A	XP_011522712.1:p.Gly368Glu
XM_011524411.1:c.1096G>A	XP_011522713.1:p.Glu366Lys
XM_017024242.2:c.235G>A	XP_016879731.1:p.Glu79Lys
XM_017024243.1:c.415G>A	XP_016879732.1:p.Glu139Lys
XM_017024244.1:c.1091G>A	XP_016879733.1:p.Gly364Glu
XM_024450617.1:c.1096G>A	XP_024306385.1:p.Glu366Lys
XM_024450618.1:c.1096G>A	XP_024306386.1:p.Glu366Lys
XM_024450619.1:c.1084G>A	XP_024306387.1:p.Glu362Lys
XM_024450620.1:c.1096G>A	XP_024306388.1:p.Glu366Lys
XM_024450621.1:c.1096G>A	XP_024306389.1:p.Glu366Lys
XM_024450622.1:c.1096G>A	XP_024306390.1:p.Glu366Lys
XM_024450623.1:c.1103G>A	XP_024306391.1:p.Gly368Glu
XM_024450624.1:c.1096G>A	XP_024306392.1:p.Glu366Lys
XM_024450625.1:c.1103G>A	XP_024306393.1:p.Gly368Glu
XM_024450626.1:c.1103G>A	XP_024306394.1:p.Gly368Glu
XM_024450627.1:c.1096G>A	XP_024306395.1:p.Glu366Lys
XR_002957973.1:n.1177G>A
XR_002957974.1:n.1177G>A
XR_002957975.1:n.1165G>A
XR_002957976.1:n.1184G>A
XR_002957977.1:n.1172G>A
XR_002957978.1:n.1184G>A
XR_002957979.1:n.1177G>A
XR_934395.1:n.3405G>A
XR_934397.1:n.3405G>A
XR_934398.1:n.3412G>A
XR_934400.1:n.3405G>A