Canonical Allele Identifier: CA3201598
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351015
dbSNP Id: rs146330391
gnomAD v2: 5-13717583-C-T
gnomAD v3: 5-13717474-C-T
gnomAD v4: 5-13717474-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13717474C>T , CM000667.2:g.13717474C>T GRCh38
NC_000005.9:g.13717583C>T , CM000667.1:g.13717583C>T GRCh37
NC_000005.8:g.13770583C>T NCBI36
NG_013081.1:g.232007G>A
NG_013081.2:g.232007G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.12546G>A MANE Select ENSP00000265104.4:p.Lys4182=
ENST00000681290.1:c.12501G>A ENSP00000505288.1:p.Lys4167=
ENST00000265104.4:c.12546G>A ENSP00000265104.4:p.Lys4182=
NM_001369.2:c.12546G>A NP_001360.1:p.Lys4182=
XM_005248262.2:c.12501G>A XP_005248319.1:p.Lys4167=
XM_005248262.3:c.12654G>A XP_005248319.2:p.Lys4218=
XM_017009177.1:c.12654G>A XP_016864666.1:p.Lys4218=
XM_017009178.1:c.11559G>A XP_016864667.1:p.Lys3853=
XM_017009179.2:c.11559G>A XP_016864668.1:p.Lys3853=
XM_017009180.1:c.12654G>A XP_016864669.1:p.Lys4218=
XM_017009185.1:c.7743G>A XP_016864674.1:p.Lys2581=
XM_017009186.1:c.7296G>A XP_016864675.1:p.Lys2432=
XM_017009188.1:c.6633G>A XP_016864677.1:p.Lys2211=
XM_024454388.1:c.11559G>A XP_024310156.1:p.Lys3853=
XM_024454389.1:c.11148G>A XP_024310157.1:p.Lys3716=
NM_001369.3:c.12546G>A MANE Select NP_001360.1:p.Lys4182=