Canonical Allele Identifier: CA3201483

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13714555C>G , CM000667.2:g.13714555C>G	GRCh38
NC_000005.9:g.13714664C>G , CM000667.1:g.13714664C>G	GRCh37
NC_000005.8:g.13767664C>G	NCBI36
NG_013081.1:g.234926G>C
NG_013081.2:g.234926G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12975G>C MANE Select	NP_001360.1:p.Gln4325His
ENST00000265104.5:c.12975G>C MANE Select	ENSP00000265104.4:p.Gln4325His
NM_001369.2:c.12975G>C	NP_001360.1:p.Gln4325His
ENST00000265104.4:c.12975G>C	ENSP00000265104.4:p.Gln4325His
ENST00000681290.1:c.12930G>C	ENSP00000505288.1:p.Gln4310His
ENST00000683611.1:n.308G>C
XM_005248262.2:c.12930G>C	XP_005248319.1:p.Gln4310His
XM_005248262.3:c.13083G>C	XP_005248319.2:p.Gln4361His
XM_017009177.1:c.12813+2760G>C	XP_016864666.1:n.12813+2760G>C
XM_017009178.1:c.11988G>C	XP_016864667.1:p.Gln3996His
XM_017009179.2:c.11988G>C	XP_016864668.1:p.Gln3996His
XM_017009185.1:c.8172G>C	XP_016864674.1:p.Gln2724His
XM_017009186.1:c.7725G>C	XP_016864675.1:p.Gln2575His
XM_017009188.1:c.7062G>C	XP_016864677.1:p.Gln2354His
XM_024454388.1:c.11988G>C	XP_024310156.1:p.Gln3996His
XM_024454389.1:c.11577G>C	XP_024310157.1:p.Gln3859His