Canonical Allele Identifier: CA3201575

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717376G>A , CM000667.2:g.13717376G>A	GRCh38
NC_000005.9:g.13717485G>A , CM000667.1:g.13717485G>A	GRCh37
NC_000005.8:g.13770485G>A	NCBI36
NG_013081.1:g.232105C>T
NG_013081.2:g.232105C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12644C>T MANE Select	NP_001360.1:p.Ala4215Val
ENST00000265104.5:c.12644C>T MANE Select	ENSP00000265104.4:p.Ala4215Val
NM_001369.2:c.12644C>T	NP_001360.1:p.Ala4215Val
ENST00000265104.4:c.12644C>T	ENSP00000265104.4:p.Ala4215Val
ENST00000681290.1:c.12599C>T	ENSP00000505288.1:p.Ala4200Val
XM_005248262.2:c.12599C>T	XP_005248319.1:p.Ala4200Val
XM_005248262.3:c.12752C>T	XP_005248319.2:p.Ala4251Val
XM_017009177.1:c.12752C>T	XP_016864666.1:p.Ala4251Val
XM_017009178.1:c.11657C>T	XP_016864667.1:p.Ala3886Val
XM_017009179.2:c.11657C>T	XP_016864668.1:p.Ala3886Val
XM_017009180.1:c.12752C>T	XP_016864669.1:p.Ala4251Val
XM_017009185.1:c.7841C>T	XP_016864674.1:p.Ala2614Val
XM_017009186.1:c.7394C>T	XP_016864675.1:p.Ala2465Val
XM_017009188.1:c.6731C>T	XP_016864677.1:p.Ala2244Val
XM_024454388.1:c.11657C>T	XP_024310156.1:p.Ala3886Val
XM_024454389.1:c.11246C>T	XP_024310157.1:p.Ala3749Val