Canonical Allele Identifier: CA443535407
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13753639T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753530T>A , CM000667.2:g.13753530T>A GRCh38
NC_000005.9:g.13753639T>A , CM000667.1:g.13753639T>A GRCh37
NC_000005.8:g.13806639T>A NCBI36
NG_013081.1:g.195951A>T
NG_013081.2:g.195951A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10575A>T MANE Select ENSP00000265104.4:p.Thr3525=
ENST00000681290.1:c.10530A>T ENSP00000505288.1:p.Thr3510=
ENST00000265104.4:c.10575A>T ENSP00000265104.4:p.Thr3525=
NM_001369.2:c.10575A>T NP_001360.1:p.Thr3525=
XM_005248262.2:c.10530A>T XP_005248319.1:p.Thr3510=
XM_005248262.3:c.10683A>T XP_005248319.2:p.Thr3561=
XM_017009177.1:c.10683A>T XP_016864666.1:p.Thr3561=
XM_017009178.1:c.9588A>T XP_016864667.1:p.Thr3196=
XM_017009179.2:c.9588A>T XP_016864668.1:p.Thr3196=
XM_017009180.1:c.10683A>T XP_016864669.1:p.Thr3561=
XM_017009181.1:c.10683A>T XP_016864670.1:p.Thr3561=
XM_017009182.1:c.10683A>T XP_016864671.1:p.Thr3561=
XM_017009185.1:c.5772A>T XP_016864674.1:p.Thr1924=
XM_017009186.1:c.5325A>T XP_016864675.1:p.Thr1775=
XM_017009188.1:c.4662A>T XP_016864677.1:p.Thr1554=
XM_024454388.1:c.9588A>T XP_024310156.1:p.Thr3196=
XM_024454389.1:c.9177A>T XP_024310157.1:p.Thr3059=
NM_001369.3:c.10575A>T MANE Select NP_001360.1:p.Thr3525=