Canonical Allele Identifier: CA443535605
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13776675A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776566A>T , CM000667.2:g.13776566A>T GRCh38
NC_000005.9:g.13776675A>T , CM000667.1:g.13776675A>T GRCh37
NC_000005.8:g.13829675A>T NCBI36
NG_013081.1:g.172915T>A
NG_013081.2:g.172915T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9246T>A MANE Select ENSP00000265104.4:p.Leu3082=
ENST00000681290.1:c.9201T>A ENSP00000505288.1:p.Leu3067=
ENST00000265104.4:c.9246T>A ENSP00000265104.4:p.Leu3082=
NM_001369.2:c.9246T>A NP_001360.1:p.Leu3082=
XM_005248262.2:c.9201T>A XP_005248319.1:p.Leu3067=
XM_005248262.3:c.9354T>A XP_005248319.2:p.Leu3118=
XM_017009177.1:c.9354T>A XP_016864666.1:p.Leu3118=
XM_017009178.1:c.8259T>A XP_016864667.1:p.Leu2753=
XM_017009179.2:c.8259T>A XP_016864668.1:p.Leu2753=
XM_017009180.1:c.9354T>A XP_016864669.1:p.Leu3118=
XM_017009181.1:c.9354T>A XP_016864670.1:p.Leu3118=
XM_017009182.1:c.9354T>A XP_016864671.1:p.Leu3118=
XM_017009183.1:c.9354T>A XP_016864672.1:p.Leu3118=
XM_017009185.1:c.4443T>A XP_016864674.1:p.Leu1481=
XM_017009186.1:c.3996T>A XP_016864675.1:p.Leu1332=
XM_017009188.1:c.3333T>A XP_016864677.1:p.Leu1111=
XM_024454388.1:c.8259T>A XP_024310156.1:p.Leu2753=
XM_024454389.1:c.7848T>A XP_024310157.1:p.Leu2616=
NM_001369.3:c.9246T>A MANE Select NP_001360.1:p.Leu3082=