Canonical Allele Identifier: CA401239567

Gene: TMC8 TMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78131907C>T , CM000679.2:g.78131907C>T	GRCh38
NC_000017.10:g.76127988C>T , CM000679.1:g.76127988C>T	GRCh37
NC_000017.9:g.73639583C>T	NCBI36
NG_007879.1:g.5501G>A , LRG_118:g.5501G>A
NG_007881.1:g.6130C>T , LRG_119:g.6130C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.175C>T (TMC8) MANE Select	NP_689681.2:p.Gln59Ter
ENST00000318430.10:c.175C>T (TMC8) MANE Select	ENSP00000325561.4:p.Gln59Ter
NM_007267.6:c.-75+434G>A , LRG_118t1:c.-75+434G>A (TMC6)	NP_009198.4:n.-75+434G>A
NM_007267.7:c.-75+434G>A (TMC6)	NP_009198.4:n.-75+434G>A
NM_152468.4:c.175C>T , LRG_119t1:c.175C>T (TMC8)	NP_689681.2:p.Gln59Ter
ENST00000318430.9:c.175C>T (TMC8)	ENSP00000325561.4:p.Gln59Ter
ENST00000322914.7:c.-75+434G>A (TMC6)	ENSP00000313408.2:n.-75+434G>A
ENST00000589691.1:c.-371-452C>T (TMC8)	ENSP00000467482.1:n.-371-452C>T
ENST00000590799.5:c.175C>T (TMC8)	ENSP00000465049.1:p.Gln59Ter
XM_011524402.1:c.175C>T (TMC8)	XP_011522704.1:p.Gln59Ter
XM_011524403.1:c.175C>T (TMC8)	XP_011522705.1:p.Gln59Ter
XM_011524404.1:c.175C>T (TMC8)	XP_011522706.1:p.Gln59Ter
XM_011524405.1:c.149+170C>T (TMC8)	XP_011522707.1:n.149+170C>T
XM_011524406.1:c.175C>T (TMC8)	XP_011522708.1:p.Gln59Ter
XM_011524409.1:c.175C>T (TMC8)	XP_011522711.1:p.Gln59Ter
XM_011524410.1:c.175C>T (TMC8)	XP_011522712.1:p.Gln59Ter
XM_011524411.1:c.175C>T (TMC8)	XP_011522713.1:p.Gln59Ter
XM_017024244.1:c.175C>T (TMC8)	XP_016879733.1:p.Gln59Ter
XM_024450617.1:c.175C>T (TMC8)	XP_024306385.1:p.Gln59Ter
XM_024450618.1:c.175C>T (TMC8)	XP_024306386.1:p.Gln59Ter
XM_024450619.1:c.175C>T (TMC8)	XP_024306387.1:p.Gln59Ter
XM_024450620.1:c.175C>T (TMC8)	XP_024306388.1:p.Gln59Ter
XM_024450621.1:c.175C>T (TMC8)	XP_024306389.1:p.Gln59Ter
XM_024450622.1:c.175C>T (TMC8)	XP_024306390.1:p.Gln59Ter
XM_024450623.1:c.175C>T (TMC8)	XP_024306391.1:p.Gln59Ter
XM_024450624.1:c.175C>T (TMC8)	XP_024306392.1:p.Gln59Ter
XM_024450625.1:c.175C>T (TMC8)	XP_024306393.1:p.Gln59Ter
XM_024450626.1:c.175C>T (TMC8)	XP_024306394.1:p.Gln59Ter
XM_024450627.1:c.175C>T (TMC8)	XP_024306395.1:p.Gln59Ter
XR_002957973.1:n.256C>T (TMC8)
XR_002957974.1:n.256C>T (TMC8)
XR_002957975.1:n.256C>T (TMC8)
XR_002957976.1:n.256C>T (TMC8)
XR_002957977.1:n.256C>T (TMC8)
XR_002957978.1:n.256C>T (TMC8)
XR_002957979.1:n.256C>T (TMC8)
XR_934395.1:n.2484C>T (TMC8)
XR_934397.1:n.2484C>T (TMC8)
XR_934398.1:n.2484C>T (TMC8)
XR_934400.1:n.2484C>T (TMC8)