Canonical Allele Identifier: CA443248792
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1740770718
MyVariant Identifiers: chr5:g.13692216A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692107A>G , CM000667.2:g.13692107A>G GRCh38
NC_000005.9:g.13692216A>G , CM000667.1:g.13692216A>G GRCh37
NC_000005.8:g.13745216A>G NCBI36
NG_013081.1:g.257374T>C
NG_013081.2:g.257374T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1085T>C
ENST00000265104.5:c.13752T>C MANE Select ENSP00000265104.4:p.Cys4584=
ENST00000681290.1:c.13707T>C ENSP00000505288.1:p.Cys4569=
ENST00000265104.4:c.13752T>C ENSP00000265104.4:p.Cys4584=
NM_001369.2:c.13752T>C NP_001360.1:p.Cys4584=
XM_005248262.2:c.13707T>C XP_005248319.1:p.Cys4569=
XM_005248262.3:c.13860T>C XP_005248319.2:p.Cys4620=
XM_017009177.1:c.13440T>C XP_016864666.1:p.Cys4480=
XM_017009178.1:c.12765T>C XP_016864667.1:p.Cys4255=
XM_017009179.2:c.12765T>C XP_016864668.1:p.Cys4255=
XM_017009185.1:c.8949T>C XP_016864674.1:p.Cys2983=
XM_017009186.1:c.8502T>C XP_016864675.1:p.Cys2834=
XM_017009188.1:c.7839T>C XP_016864677.1:p.Cys2613=
XM_024454388.1:c.12765T>C XP_024310156.1:p.Cys4255=
XM_024454389.1:c.12354T>C XP_024310157.1:p.Cys4118=
NM_001369.3:c.13752T>C MANE Select NP_001360.1:p.Cys4584=