Canonical Allele Identifier: CA443535763
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13776612A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776503A>T , CM000667.2:g.13776503A>T GRCh38
NC_000005.9:g.13776612A>T , CM000667.1:g.13776612A>T GRCh37
NC_000005.8:g.13829612A>T NCBI36
NG_013081.1:g.172978T>A
NG_013081.2:g.172978T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9309T>A MANE Select ENSP00000265104.4:p.Pro3103=
ENST00000681290.1:c.9264T>A ENSP00000505288.1:p.Pro3088=
ENST00000265104.4:c.9309T>A ENSP00000265104.4:p.Pro3103=
NM_001369.2:c.9309T>A NP_001360.1:p.Pro3103=
XM_005248262.2:c.9264T>A XP_005248319.1:p.Pro3088=
XM_005248262.3:c.9417T>A XP_005248319.2:p.Pro3139=
XM_017009177.1:c.9417T>A XP_016864666.1:p.Pro3139=
XM_017009178.1:c.8322T>A XP_016864667.1:p.Pro2774=
XM_017009179.2:c.8322T>A XP_016864668.1:p.Pro2774=
XM_017009180.1:c.9417T>A XP_016864669.1:p.Pro3139=
XM_017009181.1:c.9417T>A XP_016864670.1:p.Pro3139=
XM_017009182.1:c.9417T>A XP_016864671.1:p.Pro3139=
XM_017009183.1:c.9417T>A XP_016864672.1:p.Pro3139=
XM_017009185.1:c.4506T>A XP_016864674.1:p.Pro1502=
XM_017009186.1:c.4059T>A XP_016864675.1:p.Pro1353=
XM_017009188.1:c.3396T>A XP_016864677.1:p.Pro1132=
XM_024454388.1:c.8322T>A XP_024310156.1:p.Pro2774=
XM_024454389.1:c.7911T>A XP_024310157.1:p.Pro2637=
NM_001369.3:c.9309T>A MANE Select NP_001360.1:p.Pro3103=