Canonical Allele Identifier: CA8796742

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78137233A>G , CM000679.2:g.78137233A>G	GRCh38
NC_000017.10:g.76133314A>G , CM000679.1:g.76133314A>G	GRCh37
NC_000017.9:g.73644909A>G	NCBI36
NG_007879.1:g.175T>C , LRG_118:g.175T>C
NG_007881.1:g.11456A>G , LRG_119:g.11456A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.1128-2A>G MANE Select	NP_689681.2:n.1128-2A>G
ENST00000318430.10:c.1128-2A>G MANE Select	ENSP00000325561.4:n.1128-2A>G
NM_152468.4:c.1128-2A>G , LRG_119t1:c.1128-2A>G	NP_689681.2:n.1128-2A>G
ENST00000318430.9:c.1128-2A>G	ENSP00000325561.4:n.1128-2A>G
ENST00000589691.1:c.459-2A>G	ENSP00000467482.1:n.459-2A>G
ENST00000590184.1:n.62-2A>G
ENST00000590184.2:n.831-2A>G
ENST00000591983.5:n.143-2A>G
ENST00000698566.1:n.790-2A>G
ENST00000698567.1:n.790-2A>G
ENST00000698568.1:n.711-2A>G
ENST00000698569.1:n.585-2A>G
ENST00000698570.1:n.432-2A>G
ENST00000698571.1:n.190-484A>G
ENST00000698572.1:n.213-2A>G
XM_011524402.1:c.1140-2A>G	XP_011522704.1:n.1140-2A>G
XM_011524403.1:c.1128-2A>G	XP_011522705.1:n.1128-2A>G
XM_011524404.1:c.1140-2A>G	XP_011522706.1:n.1140-2A>G
XM_011524405.1:c.1026-2A>G	XP_011522707.1:n.1026-2A>G
XM_011524406.1:c.1147-484A>G	XP_011522708.1:n.1147-484A>G
XM_011524407.1:c.471-2A>G	XP_011522709.1:n.471-2A>G
XM_011524408.1:c.471-2A>G	XP_011522710.1:n.471-2A>G
XM_011524410.1:c.1147-2A>G	XP_011522712.1:n.1147-2A>G
XM_017024242.2:c.279-2A>G	XP_016879731.1:n.279-2A>G
XM_017024243.1:c.459-2A>G	XP_016879732.1:n.459-2A>G
XM_024450617.1:c.1140-2A>G	XP_024306385.1:n.1140-2A>G
XM_024450618.1:c.1140-2A>G	XP_024306386.1:n.1140-2A>G
XM_024450619.1:c.1128-2A>G	XP_024306387.1:n.1128-2A>G
XM_024450620.1:c.1140-2A>G	XP_024306388.1:n.1140-2A>G
XM_024450621.1:c.1140-2A>G	XP_024306389.1:n.1140-2A>G
XM_024450622.1:c.1140-2A>G	XP_024306390.1:n.1140-2A>G
XM_024450623.1:c.1147-484A>G	XP_024306391.1:n.1147-484A>G
XM_024450624.1:c.1140-2A>G	XP_024306392.1:n.1140-2A>G
XM_024450626.1:c.1147-2A>G	XP_024306394.1:n.1147-2A>G
XR_002957973.1:n.1221-2A>G
XR_002957974.1:n.1221-2A>G
XR_002957975.1:n.1209-2A>G
XR_002957976.1:n.1228-2A>G
XR_002957977.1:n.1216-2A>G
XR_002957978.1:n.1228-2A>G
XR_002957979.1:n.1221-484A>G
XR_934395.1:n.3449-2A>G
XR_934397.1:n.3449-2A>G
XR_934398.1:n.3456-2A>G
XR_934400.1:n.3449-484A>G