Canonical Allele Identifier: CA359203503

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13716485A>G , CM000667.2:g.13716485A>G	GRCh38
NC_000005.9:g.13716594A>G , CM000667.1:g.13716594A>G	GRCh37
NC_000005.8:g.13769594A>G	NCBI36
NG_013081.1:g.232996T>C
NG_013081.2:g.232996T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12909+2T>C MANE Select	NP_001360.1:n.12909+2T>C
ENST00000265104.5:c.12909+2T>C MANE Select	ENSP00000265104.4:n.12909+2T>C
NM_001369.2:c.12909+2T>C	NP_001360.1:n.12909+2T>C
ENST00000265104.4:c.12909+2T>C	ENSP00000265104.4:n.12909+2T>C
ENST00000681290.1:c.12864+2T>C	ENSP00000505288.1:n.12864+2T>C
XM_005248262.2:c.12864+2T>C	XP_005248319.1:n.12864+2T>C
XM_005248262.3:c.13017+2T>C	XP_005248319.2:n.13017+2T>C
XM_017009177.1:c.12813+830T>C	XP_016864666.1:n.12813+830T>C
XM_017009178.1:c.11922+2T>C	XP_016864667.1:n.11922+2T>C
XM_017009179.2:c.11922+2T>C	XP_016864668.1:n.11922+2T>C
XM_017009185.1:c.8106+2T>C	XP_016864674.1:n.8106+2T>C
XM_017009186.1:c.7659+2T>C	XP_016864675.1:n.7659+2T>C
XM_017009188.1:c.6996+2T>C	XP_016864677.1:n.6996+2T>C
XM_024454388.1:c.11922+2T>C	XP_024310156.1:n.11922+2T>C
XM_024454389.1:c.11511+2T>C	XP_024310157.1:n.11511+2T>C