Canonical Allele Identifier: CA359208717

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13718880A>C , CM000667.2:g.13718880A>C	GRCh38
NC_000005.9:g.13718989A>C , CM000667.1:g.13718989A>C	GRCh37
NC_000005.8:g.13771989A>C	NCBI36
NG_013081.1:g.230601T>G
NG_013081.2:g.230601T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12499+2T>G MANE Select	NP_001360.1:n.12499+2T>G
ENST00000265104.5:c.12499+2T>G MANE Select	ENSP00000265104.4:n.12499+2T>G
NM_001369.2:c.12499+2T>G	NP_001360.1:n.12499+2T>G
ENST00000265104.4:c.12499+2T>G	ENSP00000265104.4:n.12499+2T>G
ENST00000681290.1:c.12454+2T>G	ENSP00000505288.1:n.12454+2T>G
XM_005248262.2:c.12454+2T>G	XP_005248319.1:n.12454+2T>G
XM_005248262.3:c.12607+2T>G	XP_005248319.2:n.12607+2T>G
XM_017009177.1:c.12607+2T>G	XP_016864666.1:n.12607+2T>G
XM_017009178.1:c.11512+2T>G	XP_016864667.1:n.11512+2T>G
XM_017009179.2:c.11512+2T>G	XP_016864668.1:n.11512+2T>G
XM_017009180.1:c.12607+2T>G	XP_016864669.1:n.12607+2T>G
XM_017009185.1:c.7696+2T>G	XP_016864674.1:n.7696+2T>G
XM_017009186.1:c.7249+2T>G	XP_016864675.1:n.7249+2T>G
XM_017009188.1:c.6586+2T>G	XP_016864677.1:n.6586+2T>G
XM_024454388.1:c.11512+2T>G	XP_024310156.1:n.11512+2T>G
XM_024454389.1:c.11101+2T>G	XP_024310157.1:n.11101+2T>G