Canonical Allele Identifier: CA359202079

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13714557G>A , CM000667.2:g.13714557G>A	GRCh38
NC_000005.9:g.13714666G>A , CM000667.1:g.13714666G>A	GRCh37
NC_000005.8:g.13767666G>A	NCBI36
NG_013081.1:g.234924C>T
NG_013081.2:g.234924C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12973C>T MANE Select	NP_001360.1:p.Gln4325Ter
ENST00000265104.5:c.12973C>T MANE Select	ENSP00000265104.4:p.Gln4325Ter
NM_001369.2:c.12973C>T	NP_001360.1:p.Gln4325Ter
ENST00000265104.4:c.12973C>T	ENSP00000265104.4:p.Gln4325Ter
ENST00000681290.1:c.12928C>T	ENSP00000505288.1:p.Gln4310Ter
ENST00000683611.1:n.306C>T
XM_005248262.2:c.12928C>T	XP_005248319.1:p.Gln4310Ter
XM_005248262.3:c.13081C>T	XP_005248319.2:p.Gln4361Ter
XM_017009177.1:c.12813+2758C>T	XP_016864666.1:n.12813+2758C>T
XM_017009178.1:c.11986C>T	XP_016864667.1:p.Gln3996Ter
XM_017009179.2:c.11986C>T	XP_016864668.1:p.Gln3996Ter
XM_017009185.1:c.8170C>T	XP_016864674.1:p.Gln2724Ter
XM_017009186.1:c.7723C>T	XP_016864675.1:p.Gln2575Ter
XM_017009188.1:c.7060C>T	XP_016864677.1:p.Gln2354Ter
XM_024454388.1:c.11986C>T	XP_024310156.1:p.Gln3996Ter
XM_024454389.1:c.11575C>T	XP_024310157.1:p.Gln3859Ter