Canonical Allele Identifier: CA359201307
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13768977C>A , CM000667.2:g.13768977C>A GRCh38
NC_000005.9:g.13769086C>A , CM000667.1:g.13769086C>A GRCh37
NC_000005.8:g.13822086C>A NCBI36
NG_013081.1:g.180504G>T
NG_013081.2:g.180504G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9880G>T MANE Select ENSP00000265104.4:p.Ala3294Ser
ENST00000681290.1:c.9835G>T ENSP00000505288.1:p.Ala3279Ser
ENST00000265104.4:c.9880G>T ENSP00000265104.4:p.Ala3294Ser
ENST00000504001.3:n.592G>T
NM_001369.2:c.9880G>T NP_001360.1:p.Ala3294Ser
XM_005248262.2:c.9835G>T XP_005248319.1:p.Ala3279Ser
XM_005248262.3:c.9988G>T XP_005248319.2:p.Ala3330Ser
XM_017009177.1:c.9988G>T XP_016864666.1:p.Ala3330Ser
XM_017009178.1:c.8893G>T XP_016864667.1:p.Ala2965Ser
XM_017009179.2:c.8893G>T XP_016864668.1:p.Ala2965Ser
XM_017009180.1:c.9988G>T XP_016864669.1:p.Ala3330Ser
XM_017009181.1:c.9988G>T XP_016864670.1:p.Ala3330Ser
XM_017009182.1:c.9988G>T XP_016864671.1:p.Ala3330Ser
XM_017009185.1:c.5077G>T XP_016864674.1:p.Ala1693Ser
XM_017009186.1:c.4630G>T XP_016864675.1:p.Ala1544Ser
XM_017009188.1:c.3967G>T XP_016864677.1:p.Ala1323Ser
XM_024454388.1:c.8893G>T XP_024310156.1:p.Ala2965Ser
XM_024454389.1:c.8482G>T XP_024310157.1:p.Ala2828Ser
NM_001369.3:c.9880G>T MANE Select NP_001360.1:p.Ala3294Ser