Canonical Allele Identifier: CA443260011
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13735312A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735203A>G , CM000667.2:g.13735203A>G GRCh38
NC_000005.9:g.13735312A>G , CM000667.1:g.13735312A>G GRCh37
NC_000005.8:g.13788312A>G NCBI36
NG_013081.1:g.214278T>C
NG_013081.2:g.214278T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11689T>C MANE Select ENSP00000265104.4:p.Leu3897=
ENST00000681290.1:c.11644T>C ENSP00000505288.1:p.Leu3882=
ENST00000265104.4:c.11689T>C ENSP00000265104.4:p.Leu3897=
NM_001369.2:c.11689T>C NP_001360.1:p.Leu3897=
XM_005248262.2:c.11644T>C XP_005248319.1:p.Leu3882=
XM_005248262.3:c.11797T>C XP_005248319.2:p.Leu3933=
XM_017009177.1:c.11797T>C XP_016864666.1:p.Leu3933=
XM_017009178.1:c.10702T>C XP_016864667.1:p.Leu3568=
XM_017009179.2:c.10702T>C XP_016864668.1:p.Leu3568=
XM_017009180.1:c.11797T>C XP_016864669.1:p.Leu3933=
XM_017009181.1:c.11797T>C XP_016864670.1:p.Leu3933=
XM_017009185.1:c.6886T>C XP_016864674.1:p.Leu2296=
XM_017009186.1:c.6439T>C XP_016864675.1:p.Leu2147=
XM_017009188.1:c.5776T>C XP_016864677.1:p.Leu1926=
XM_024454388.1:c.10702T>C XP_024310156.1:p.Leu3568=
XM_024454389.1:c.10291T>C XP_024310157.1:p.Leu3431=
NM_001369.3:c.11689T>C MANE Select NP_001360.1:p.Leu3897=