Canonical Allele Identifier: CA349939309

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195796701C>T , CM000664.2:g.195796701C>T	GRCh38
NC_000002.11:g.196661425C>T , CM000664.1:g.196661425C>T	GRCh37
NC_000002.10:g.196369670C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.10390G>A MANE Select	NP_061720.2:p.Gly3464Ser
ENST00000312428.11:c.10390G>A MANE Select	ENSP00000311273.6:p.Gly3464Ser
NM_018897.2:c.10390G>A	NP_061720.2:p.Gly3464Ser
ENST00000312428.10:c.10390G>A	ENSP00000311273.6:p.Gly3464Ser
XM_011511487.1:c.10390G>A	XP_011509789.1:p.Gly3464Ser
XM_011511488.1:c.10270G>A	XP_011509790.1:p.Gly3424Ser
XM_011511488.3:c.10270G>A	XP_011509790.1:p.Gly3424Ser
XM_011511489.1:c.10252G>A	XP_011509791.1:p.Gly3418Ser
XM_011511489.2:c.10252G>A	XP_011509791.1:p.Gly3418Ser
XM_011511490.1:c.10165G>A	XP_011509792.1:p.Gly3389Ser
XM_011511490.3:c.10165G>A	XP_011509792.1:p.Gly3389Ser
XM_011511496.1:c.6034G>A	XP_011509798.1:p.Gly2012Ser
XM_011511497.1:c.4762G>A	XP_011509799.1:p.Gly1588Ser
XM_011511497.2:c.4762G>A	XP_011509799.1:p.Gly1588Ser
XM_017004504.2:c.10117G>A	XP_016859993.1:p.Gly3373Ser
XR_923736.1:n.330+435C>T
XR_923736.2:n.452+435C>T