Canonical Allele Identifier: CA443535602
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13770962G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770853G>A , CM000667.2:g.13770853G>A GRCh38
NC_000005.9:g.13770962G>A , CM000667.1:g.13770962G>A GRCh37
NC_000005.8:g.13823962G>A NCBI36
NG_013081.1:g.178628C>T
NG_013081.2:g.178628C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9501C>T MANE Select ENSP00000265104.4:p.Phe3167=
ENST00000681290.1:c.9456C>T ENSP00000505288.1:p.Phe3152=
ENST00000265104.4:c.9501C>T ENSP00000265104.4:p.Phe3167=
ENST00000504001.3:n.213C>T
NM_001369.2:c.9501C>T NP_001360.1:p.Phe3167=
XM_005248262.2:c.9456C>T XP_005248319.1:p.Phe3152=
XM_005248262.3:c.9609C>T XP_005248319.2:p.Phe3203=
XM_017009177.1:c.9609C>T XP_016864666.1:p.Phe3203=
XM_017009178.1:c.8514C>T XP_016864667.1:p.Phe2838=
XM_017009179.2:c.8514C>T XP_016864668.1:p.Phe2838=
XM_017009180.1:c.9609C>T XP_016864669.1:p.Phe3203=
XM_017009181.1:c.9609C>T XP_016864670.1:p.Phe3203=
XM_017009182.1:c.9609C>T XP_016864671.1:p.Phe3203=
XM_017009183.1:c.9609C>T XP_016864672.1:p.Phe3203=
XM_017009185.1:c.4698C>T XP_016864674.1:p.Phe1566=
XM_017009186.1:c.4251C>T XP_016864675.1:p.Phe1417=
XM_017009188.1:c.3588C>T XP_016864677.1:p.Phe1196=
XM_024454388.1:c.8514C>T XP_024310156.1:p.Phe2838=
XM_024454389.1:c.8103C>T XP_024310157.1:p.Phe2701=
NM_001369.3:c.9501C>T MANE Select NP_001360.1:p.Phe3167=