Canonical Allele Identifier: CA359213277

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721041C>A , CM000667.2:g.13721041C>A	GRCh38
NC_000005.9:g.13721150C>A , CM000667.1:g.13721150C>A	GRCh37
NC_000005.8:g.13774150C>A	NCBI36
NG_013081.1:g.228440G>T
NG_013081.2:g.228440G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12238G>T MANE Select	NP_001360.1:p.Glu4080Ter
ENST00000265104.5:c.12238G>T MANE Select	ENSP00000265104.4:p.Glu4080Ter
NM_001369.2:c.12238G>T	NP_001360.1:p.Glu4080Ter
ENST00000265104.4:c.12238G>T	ENSP00000265104.4:p.Glu4080Ter
ENST00000681290.1:c.12193G>T	ENSP00000505288.1:p.Glu4065Ter
XM_005248262.2:c.12193G>T	XP_005248319.1:p.Glu4065Ter
XM_005248262.3:c.12346G>T	XP_005248319.2:p.Glu4116Ter
XM_017009177.1:c.12346G>T	XP_016864666.1:p.Glu4116Ter
XM_017009178.1:c.11251G>T	XP_016864667.1:p.Glu3751Ter
XM_017009179.2:c.11251G>T	XP_016864668.1:p.Glu3751Ter
XM_017009180.1:c.12346G>T	XP_016864669.1:p.Glu4116Ter
XM_017009185.1:c.7435G>T	XP_016864674.1:p.Glu2479Ter
XM_017009186.1:c.6988G>T	XP_016864675.1:p.Glu2330Ter
XM_017009188.1:c.6325G>T	XP_016864677.1:p.Glu2109Ter
XM_024454388.1:c.11251G>T	XP_024310156.1:p.Glu3751Ter
XM_024454389.1:c.10840G>T	XP_024310157.1:p.Glu3614Ter