Canonical Allele Identifier: CA359204600
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770846A>G , CM000667.2:g.13770846A>G GRCh38
NC_000005.9:g.13770955A>G , CM000667.1:g.13770955A>G GRCh37
NC_000005.8:g.13823955A>G NCBI36
NG_013081.1:g.178635T>C
NG_013081.2:g.178635T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9508T>C MANE Select ENSP00000265104.4:p.Ser3170Pro
ENST00000681290.1:c.9463T>C ENSP00000505288.1:p.Ser3155Pro
ENST00000265104.4:c.9508T>C ENSP00000265104.4:p.Ser3170Pro
ENST00000504001.3:n.220T>C
NM_001369.2:c.9508T>C NP_001360.1:p.Ser3170Pro
XM_005248262.2:c.9463T>C XP_005248319.1:p.Ser3155Pro
XM_005248262.3:c.9616T>C XP_005248319.2:p.Ser3206Pro
XM_017009177.1:c.9616T>C XP_016864666.1:p.Ser3206Pro
XM_017009178.1:c.8521T>C XP_016864667.1:p.Ser2841Pro
XM_017009179.2:c.8521T>C XP_016864668.1:p.Ser2841Pro
XM_017009180.1:c.9616T>C XP_016864669.1:p.Ser3206Pro
XM_017009181.1:c.9616T>C XP_016864670.1:p.Ser3206Pro
XM_017009182.1:c.9616T>C XP_016864671.1:p.Ser3206Pro
XM_017009183.1:c.9616T>C XP_016864672.1:p.Ser3206Pro
XM_017009185.1:c.4705T>C XP_016864674.1:p.Ser1569Pro
XM_017009186.1:c.4258T>C XP_016864675.1:p.Ser1420Pro
XM_017009188.1:c.3595T>C XP_016864677.1:p.Ser1199Pro
XM_024454388.1:c.8521T>C XP_024310156.1:p.Ser2841Pro
XM_024454389.1:c.8110T>C XP_024310157.1:p.Ser2704Pro
NM_001369.3:c.9508T>C MANE Select NP_001360.1:p.Ser3170Pro