Canonical Allele Identifier: CA3202530
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2139464
ClinVar RCV Id: RCV003052611
dbSNP Id: rs758573011
gnomAD v2: 5-13770949-G-C
gnomAD v3: 5-13770840-G-C
gnomAD v4: 5-13770840-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770840G>C , CM000667.2:g.13770840G>C GRCh38
NC_000005.9:g.13770949G>C , CM000667.1:g.13770949G>C GRCh37
NC_000005.8:g.13823949G>C NCBI36
NG_013081.1:g.178641C>G
NG_013081.2:g.178641C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9514C>G MANE Select ENSP00000265104.4:p.His3172Asp
ENST00000681290.1:c.9469C>G ENSP00000505288.1:p.His3157Asp
ENST00000265104.4:c.9514C>G ENSP00000265104.4:p.His3172Asp
ENST00000504001.3:n.226C>G
NM_001369.2:c.9514C>G NP_001360.1:p.His3172Asp
XM_005248262.2:c.9469C>G XP_005248319.1:p.His3157Asp
XM_005248262.3:c.9622C>G XP_005248319.2:p.His3208Asp
XM_017009177.1:c.9622C>G XP_016864666.1:p.His3208Asp
XM_017009178.1:c.8527C>G XP_016864667.1:p.His2843Asp
XM_017009179.2:c.8527C>G XP_016864668.1:p.His2843Asp
XM_017009180.1:c.9622C>G XP_016864669.1:p.His3208Asp
XM_017009181.1:c.9622C>G XP_016864670.1:p.His3208Asp
XM_017009182.1:c.9622C>G XP_016864671.1:p.His3208Asp
XM_017009183.1:c.9622C>G XP_016864672.1:p.His3208Asp
XM_017009185.1:c.4711C>G XP_016864674.1:p.His1571Asp
XM_017009186.1:c.4264C>G XP_016864675.1:p.His1422Asp
XM_017009188.1:c.3601C>G XP_016864677.1:p.His1201Asp
XM_024454388.1:c.8527C>G XP_024310156.1:p.His2843Asp
XM_024454389.1:c.8116C>G XP_024310157.1:p.His2706Asp
NM_001369.3:c.9514C>G MANE Select NP_001360.1:p.His3172Asp