Canonical Allele Identifier: CA349933937
Gene: DNAH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195787149T>G , CM000664.2:g.195787149T>G GRCh38
NC_000002.11:g.196651873T>G , CM000664.1:g.196651873T>G GRCh37
NC_000002.10:g.196360118T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312428.11:c.10739A>C MANE Select ENSP00000311273.6:p.Tyr3580Ser
ENST00000312428.10:c.10739A>C ENSP00000311273.6:p.Tyr3580Ser
ENST00000409063.5:c.188A>C ENSP00000386912.1:p.Tyr63Ser
NM_018897.2:c.10739A>C NP_061720.2:p.Tyr3580Ser
XM_011511487.1:c.10739A>C XP_011509789.1:p.Tyr3580Ser
XM_011511488.1:c.10619A>C XP_011509790.1:p.Tyr3540Ser
XM_011511489.1:c.10601A>C XP_011509791.1:p.Tyr3534Ser
XM_011511490.1:c.10514A>C XP_011509792.1:p.Tyr3505Ser
XM_011511496.1:c.6383A>C XP_011509798.1:p.Tyr2128Ser
XM_011511497.1:c.5111A>C XP_011509799.1:p.Tyr1704Ser
XM_011511488.3:c.10619A>C XP_011509790.1:p.Tyr3540Ser
XM_011511489.2:c.10601A>C XP_011509791.1:p.Tyr3534Ser
XM_011511490.3:c.10514A>C XP_011509792.1:p.Tyr3505Ser
XM_011511497.2:c.5111A>C XP_011509799.1:p.Tyr1704Ser
XM_017004504.2:c.10466A>C XP_016859993.1:p.Tyr3489Ser
NM_018897.3:c.10739A>C MANE Select NP_061720.2:p.Tyr3580Ser