Canonical Allele Identifier: CA2578269532

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692222A>G , CM000667.2:g.13692222A>G	GRCh38
NC_000005.9:g.13692331A>G , CM000667.1:g.13692331A>G	GRCh37
NC_000005.8:g.13745331A>G	NCBI36
NG_013081.1:g.257259T>C
NG_013081.2:g.257259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1057-87T>C
ENST00000265104.5:c.13724-87T>C MANE Select	ENSP00000265104.4:n.13724-87T>C
ENST00000681290.1:c.13679-87T>C	ENSP00000505288.1:n.13679-87T>C
ENST00000265104.4:c.13724-87T>C	ENSP00000265104.4:n.13724-87T>C
NM_001369.2:c.13724-87T>C	NP_001360.1:n.13724-87T>C
XM_005248262.2:c.13679-87T>C	XP_005248319.1:n.13679-87T>C
XM_005248262.3:c.13832-87T>C	XP_005248319.2:n.13832-87T>C
XM_017009177.1:c.13412-87T>C	XP_016864666.1:n.13412-87T>C
XM_017009178.1:c.12737-87T>C	XP_016864667.1:n.12737-87T>C
XM_017009179.2:c.12737-87T>C	XP_016864668.1:n.12737-87T>C
XM_017009185.1:c.8921-87T>C	XP_016864674.1:n.8921-87T>C
XM_017009186.1:c.8474-87T>C	XP_016864675.1:n.8474-87T>C
XM_017009188.1:c.7811-87T>C	XP_016864677.1:n.7811-87T>C
XM_024454388.1:c.12737-87T>C	XP_024310156.1:n.12737-87T>C
XM_024454389.1:c.12326-87T>C	XP_024310157.1:n.12326-87T>C
NM_001369.3:c.13724-87T>C MANE Select	NP_001360.1:n.13724-87T>C