Canonical Allele Identifier: CA359188625

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692164C>G (hg19) ; chr5:g.13692055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692055C>G , CM000667.2:g.13692055C>G	GRCh38
NC_000005.9:g.13692164C>G , CM000667.1:g.13692164C>G	GRCh37
NC_000005.8:g.13745164C>G	NCBI36
NG_013081.1:g.257426G>C
NG_013081.2:g.257426G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1137G>C
ENST00000265104.5:c.13804G>C MANE Select	ENSP00000265104.4:p.Asp4602His
ENST00000681290.1:c.13759G>C	ENSP00000505288.1:p.Asp4587His
ENST00000265104.4:c.13804G>C	ENSP00000265104.4:p.Asp4602His
NM_001369.2:c.13804G>C	NP_001360.1:p.Asp4602His
XM_005248262.2:c.13759G>C	XP_005248319.1:p.Asp4587His
XM_005248262.3:c.13912G>C	XP_005248319.2:p.Asp4638His
XM_017009177.1:c.13492G>C	XP_016864666.1:p.Asp4498His
XM_017009178.1:c.12817G>C	XP_016864667.1:p.Asp4273His
XM_017009179.2:c.12817G>C	XP_016864668.1:p.Asp4273His
XM_017009185.1:c.9001G>C	XP_016864674.1:p.Asp3001His
XM_017009186.1:c.8554G>C	XP_016864675.1:p.Asp2852His
XM_017009188.1:c.7891G>C	XP_016864677.1:p.Asp2631His
XM_024454388.1:c.12817G>C	XP_024310156.1:p.Asp4273His
XM_024454389.1:c.12406G>C	XP_024310157.1:p.Asp4136His
NM_001369.3:c.13804G>C MANE Select	NP_001360.1:p.Asp4602His