Canonical Allele Identifier: CA113920855

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721233T>G , CM000667.2:g.13721233T>G	GRCh38
NC_000005.9:g.13721342T>G , CM000667.1:g.13721342T>G	GRCh37
NC_000005.8:g.13774342T>G	NCBI36
NG_013081.1:g.228248A>C
NG_013081.2:g.228248A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12046A>C MANE Select	NP_001360.1:p.Ile4016Leu
ENST00000265104.5:c.12046A>C MANE Select	ENSP00000265104.4:p.Ile4016Leu
NM_001369.2:c.12046A>C	NP_001360.1:p.Ile4016Leu
ENST00000265104.4:c.12046A>C	ENSP00000265104.4:p.Ile4016Leu
ENST00000681290.1:c.12001A>C	ENSP00000505288.1:p.Ile4001Leu
XM_005248262.2:c.12001A>C	XP_005248319.1:p.Ile4001Leu
XM_005248262.3:c.12154A>C	XP_005248319.2:p.Ile4052Leu
XM_017009177.1:c.12154A>C	XP_016864666.1:p.Ile4052Leu
XM_017009178.1:c.11059A>C	XP_016864667.1:p.Ile3687Leu
XM_017009179.2:c.11059A>C	XP_016864668.1:p.Ile3687Leu
XM_017009180.1:c.12154A>C	XP_016864669.1:p.Ile4052Leu
XM_017009185.1:c.7243A>C	XP_016864674.1:p.Ile2415Leu
XM_017009186.1:c.6796A>C	XP_016864675.1:p.Ile2266Leu
XM_017009188.1:c.6133A>C	XP_016864677.1:p.Ile2045Leu
XM_024454388.1:c.11059A>C	XP_024310156.1:p.Ile3687Leu
XM_024454389.1:c.10648A>C	XP_024310157.1:p.Ile3550Leu