Canonical Allele Identifier: CA3201319

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13700882C>A , CM000667.2:g.13700882C>A	GRCh38
NC_000005.9:g.13700991C>A , CM000667.1:g.13700991C>A	GRCh37
NC_000005.8:g.13753991C>A	NCBI36
NG_013081.1:g.248599G>T
NG_013081.2:g.248599G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13492-11G>T MANE Select	NP_001360.1:n.13492-11G>T
ENST00000265104.5:c.13492-11G>T MANE Select	ENSP00000265104.4:n.13492-11G>T
NM_001369.2:c.13492-11G>T	NP_001360.1:n.13492-11G>T
ENST00000265104.4:c.13492-11G>T	ENSP00000265104.4:n.13492-11G>T
ENST00000681290.1:c.13447-11G>T	ENSP00000505288.1:n.13447-11G>T
ENST00000683611.1:n.825-11G>T
XM_005248262.2:c.13447-11G>T	XP_005248319.1:n.13447-11G>T
XM_005248262.3:c.13600-11G>T	XP_005248319.2:n.13600-11G>T
XM_017009177.1:c.13180-11G>T	XP_016864666.1:n.13180-11G>T
XM_017009178.1:c.12505-11G>T	XP_016864667.1:n.12505-11G>T
XM_017009179.2:c.12505-11G>T	XP_016864668.1:n.12505-11G>T
XM_017009185.1:c.8689-11G>T	XP_016864674.1:n.8689-11G>T
XM_017009186.1:c.8242-11G>T	XP_016864675.1:n.8242-11G>T
XM_017009188.1:c.7579-11G>T	XP_016864677.1:n.7579-11G>T
XM_024454388.1:c.12505-11G>T	XP_024310156.1:n.12505-11G>T
XM_024454389.1:c.12094-11G>T	XP_024310157.1:n.12094-11G>T