Canonical Allele Identifier: CA443248734
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13752372G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752263G>A , CM000667.2:g.13752263G>A GRCh38
NC_000005.9:g.13752372G>A , CM000667.1:g.13752372G>A GRCh37
NC_000005.8:g.13805372G>A NCBI36
NG_013081.1:g.197218C>T
NG_013081.2:g.197218C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.10899C>T MANE Select ENSP00000265104.4:p.Phe3633=
ENST00000681290.1:c.10854C>T ENSP00000505288.1:p.Phe3618=
ENST00000265104.4:c.10899C>T ENSP00000265104.4:p.Phe3633=
NM_001369.2:c.10899C>T NP_001360.1:p.Phe3633=
XM_005248262.2:c.10854C>T XP_005248319.1:p.Phe3618=
XM_005248262.3:c.11007C>T XP_005248319.2:p.Phe3669=
XM_017009177.1:c.11007C>T XP_016864666.1:p.Phe3669=
XM_017009178.1:c.9912C>T XP_016864667.1:p.Phe3304=
XM_017009179.2:c.9912C>T XP_016864668.1:p.Phe3304=
XM_017009180.1:c.11007C>T XP_016864669.1:p.Phe3669=
XM_017009181.1:c.11007C>T XP_016864670.1:p.Phe3669=
XM_017009182.1:c.11007C>T XP_016864671.1:p.Phe3669=
XM_017009185.1:c.6096C>T XP_016864674.1:p.Phe2032=
XM_017009186.1:c.5649C>T XP_016864675.1:p.Phe1883=
XM_017009188.1:c.4986C>T XP_016864677.1:p.Phe1662=
XM_024454388.1:c.9912C>T XP_024310156.1:p.Phe3304=
XM_024454389.1:c.9501C>T XP_024310157.1:p.Phe3167=
NM_001369.3:c.10899C>T MANE Select NP_001360.1:p.Phe3633=