Canonical Allele Identifier: CA3201374

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701366G>A , CM000667.2:g.13701366G>A	GRCh38
NC_000005.9:g.13701475G>A , CM000667.1:g.13701475G>A	GRCh37
NC_000005.8:g.13754475G>A	NCBI36
NG_013081.1:g.248115C>T
NG_013081.2:g.248115C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13409C>T MANE Select	NP_001360.1:p.Ser4470Leu
ENST00000265104.5:c.13409C>T MANE Select	ENSP00000265104.4:p.Ser4470Leu
NM_001369.2:c.13409C>T	NP_001360.1:p.Ser4470Leu
ENST00000265104.4:c.13409C>T	ENSP00000265104.4:p.Ser4470Leu
ENST00000681290.1:c.13364C>T	ENSP00000505288.1:p.Ser4455Leu
ENST00000683611.1:n.742C>T
XM_005248262.2:c.13364C>T	XP_005248319.1:p.Ser4455Leu
XM_005248262.3:c.13517C>T	XP_005248319.2:p.Ser4506Leu
XM_017009177.1:c.13097C>T	XP_016864666.1:p.Ser4366Leu
XM_017009178.1:c.12422C>T	XP_016864667.1:p.Ser4141Leu
XM_017009179.2:c.12422C>T	XP_016864668.1:p.Ser4141Leu
XM_017009185.1:c.8606C>T	XP_016864674.1:p.Ser2869Leu
XM_017009186.1:c.8159C>T	XP_016864675.1:p.Ser2720Leu
XM_017009188.1:c.7496C>T	XP_016864677.1:p.Ser2499Leu
XM_024454388.1:c.12422C>T	XP_024310156.1:p.Ser4141Leu
XM_024454389.1:c.12011C>T	XP_024310157.1:p.Ser4004Leu