Canonical Allele Identifier: CA359208066
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2871903
ClinVar RCV Id: RCV003654030
dbSNP Id: rs771586458
gnomAD v2: 5-13776582-C-T
gnomAD v4: 5-13776473-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776473C>T , CM000667.2:g.13776473C>T GRCh38
NC_000005.9:g.13776582C>T , CM000667.1:g.13776582C>T GRCh37
NC_000005.8:g.13829582C>T NCBI36
NG_013081.1:g.173008G>A
NG_013081.2:g.173008G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9339G>A MANE Select ENSP00000265104.4:p.Trp3113Ter
ENST00000681290.1:c.9294G>A ENSP00000505288.1:p.Trp3098Ter
ENST00000265104.4:c.9339G>A ENSP00000265104.4:p.Trp3113Ter
NM_001369.2:c.9339G>A NP_001360.1:p.Trp3113Ter
XM_005248262.2:c.9294G>A XP_005248319.1:p.Trp3098Ter
XM_005248262.3:c.9447G>A XP_005248319.2:p.Trp3149Ter
XM_017009177.1:c.9447G>A XP_016864666.1:p.Trp3149Ter
XM_017009178.1:c.8352G>A XP_016864667.1:p.Trp2784Ter
XM_017009179.2:c.8352G>A XP_016864668.1:p.Trp2784Ter
XM_017009180.1:c.9447G>A XP_016864669.1:p.Trp3149Ter
XM_017009181.1:c.9447G>A XP_016864670.1:p.Trp3149Ter
XM_017009182.1:c.9447G>A XP_016864671.1:p.Trp3149Ter
XM_017009183.1:c.9447G>A XP_016864672.1:p.Trp3149Ter
XM_017009185.1:c.4536G>A XP_016864674.1:p.Trp1512Ter
XM_017009186.1:c.4089G>A XP_016864675.1:p.Trp1363Ter
XM_017009188.1:c.3426G>A XP_016864677.1:p.Trp1142Ter
XM_024454388.1:c.8352G>A XP_024310156.1:p.Trp2784Ter
XM_024454389.1:c.7941G>A XP_024310157.1:p.Trp2647Ter
NM_001369.3:c.9339G>A MANE Select NP_001360.1:p.Trp3113Ter