Canonical Allele Identifier: CA8796876

Gene: TMC8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78138117G>A , CM000679.2:g.78138117G>A	GRCh38
NC_000017.10:g.76134198G>A , CM000679.1:g.76134198G>A	GRCh37
NC_000017.9:g.73645793G>A	NCBI36
NG_007881.1:g.12340G>A , LRG_119:g.12340G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152468.5:c.1462G>A MANE Select	NP_689681.2:p.Gly488Ser
ENST00000318430.10:c.1462G>A MANE Select	ENSP00000325561.4:p.Gly488Ser
NM_152468.4:c.1462G>A , LRG_119t1:c.1462G>A	NP_689681.2:p.Gly488Ser
ENST00000318430.9:c.1462G>A	ENSP00000325561.4:p.Gly488Ser
ENST00000589691.1:c.793G>A	ENSP00000467482.1:p.Gly265Ser
ENST00000590184.2:n.1130G>A
ENST00000591003.1:n.274G>A
ENST00000698566.1:n.1124G>A
ENST00000698567.1:n.1124G>A
ENST00000698568.1:n.1045G>A
ENST00000698569.1:n.884G>A
ENST00000698570.1:n.731G>A
ENST00000698571.1:n.400G>A
ENST00000698572.1:n.547G>A
XM_011524402.1:c.1474G>A	XP_011522704.1:p.Gly492Ser
XM_011524403.1:c.1462G>A	XP_011522705.1:p.Gly488Ser
XM_011524404.1:c.1474G>A	XP_011522706.1:p.Gly492Ser
XM_011524405.1:c.1360G>A	XP_011522707.1:p.Gly454Ser
XM_011524406.1:c.1357G>A	XP_011522708.1:p.Gly453Ser
XM_011524407.1:c.805G>A	XP_011522709.1:p.Gly269Ser
XM_011524408.1:c.805G>A	XP_011522710.1:p.Gly269Ser
XM_017024242.2:c.613G>A	XP_016879731.1:p.Gly205Ser
XM_017024243.1:c.793G>A	XP_016879732.1:p.Gly265Ser
XM_024450617.1:c.1474G>A	XP_024306385.1:p.Gly492Ser
XM_024450618.1:c.1474G>A	XP_024306386.1:p.Gly492Ser
XM_024450619.1:c.1462G>A	XP_024306387.1:p.Gly488Ser
XM_024450620.1:c.1474G>A	XP_024306388.1:p.Gly492Ser
XM_024450621.1:c.1474G>A	XP_024306389.1:p.Gly492Ser
XM_024450622.1:c.1474G>A	XP_024306390.1:p.Gly492Ser
XM_024450623.1:c.1357G>A	XP_024306391.1:p.Gly453Ser
XM_024450624.1:c.1439G>A	XP_024306392.1:p.Gly480Glu
XR_002957973.1:n.1555G>A
XR_002957974.1:n.1520G>A
XR_002957975.1:n.1508G>A
XR_002957976.1:n.1527G>A
XR_002957977.1:n.1515G>A
XR_002957978.1:n.1562G>A
XR_002957979.1:n.1431G>A
XR_934395.1:n.3783G>A
XR_934397.1:n.3748G>A
XR_934398.1:n.3755G>A
XR_934400.1:n.3659G>A