Canonical Allele Identifier: CA443248701
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13752339T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752230T>C , CM000667.2:g.13752230T>C GRCh38
NC_000005.9:g.13752339T>C , CM000667.1:g.13752339T>C GRCh37
NC_000005.8:g.13805339T>C NCBI36
NG_013081.1:g.197251A>G
NG_013081.2:g.197251A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10932A>G MANE Select ENSP00000265104.4:p.Gly3644=
ENST00000681290.1:c.10887A>G ENSP00000505288.1:p.Gly3629=
ENST00000265104.4:c.10932A>G ENSP00000265104.4:p.Gly3644=
NM_001369.2:c.10932A>G NP_001360.1:p.Gly3644=
XM_005248262.2:c.10887A>G XP_005248319.1:p.Gly3629=
XM_005248262.3:c.11040A>G XP_005248319.2:p.Gly3680=
XM_017009177.1:c.11040A>G XP_016864666.1:p.Gly3680=
XM_017009178.1:c.9945A>G XP_016864667.1:p.Gly3315=
XM_017009179.2:c.9945A>G XP_016864668.1:p.Gly3315=
XM_017009180.1:c.11040A>G XP_016864669.1:p.Gly3680=
XM_017009181.1:c.11040A>G XP_016864670.1:p.Gly3680=
XM_017009182.1:c.11040A>G XP_016864671.1:p.Gly3680=
XM_017009185.1:c.6129A>G XP_016864674.1:p.Gly2043=
XM_017009186.1:c.5682A>G XP_016864675.1:p.Gly1894=
XM_017009188.1:c.5019A>G XP_016864677.1:p.Gly1673=
XM_024454388.1:c.9945A>G XP_024310156.1:p.Gly3315=
XM_024454389.1:c.9534A>G XP_024310157.1:p.Gly3178=
NM_001369.3:c.10932A>G MANE Select NP_001360.1:p.Gly3644=