Canonical Allele Identifier: CA359188522

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692115G>C (hg19) ; chr5:g.13692006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692006G>C , CM000667.2:g.13692006G>C	GRCh38
NC_000005.9:g.13692115G>C , CM000667.1:g.13692115G>C	GRCh37
NC_000005.8:g.13745115G>C	NCBI36
NG_013081.1:g.257475C>G
NG_013081.2:g.257475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1186C>G
ENST00000265104.5:c.13853C>G MANE Select	ENSP00000265104.4:p.Ala4618Gly
ENST00000681290.1:c.13808C>G	ENSP00000505288.1:p.Ala4603Gly
ENST00000265104.4:c.13853C>G	ENSP00000265104.4:p.Ala4618Gly
NM_001369.2:c.13853C>G	NP_001360.1:p.Ala4618Gly
XM_005248262.2:c.13808C>G	XP_005248319.1:p.Ala4603Gly
XM_005248262.3:c.13961C>G	XP_005248319.2:p.Ala4654Gly
XM_017009177.1:c.13541C>G	XP_016864666.1:p.Ala4514Gly
XM_017009178.1:c.12866C>G	XP_016864667.1:p.Ala4289Gly
XM_017009179.2:c.12866C>G	XP_016864668.1:p.Ala4289Gly
XM_017009185.1:c.9050C>G	XP_016864674.1:p.Ala3017Gly
XM_017009186.1:c.8603C>G	XP_016864675.1:p.Ala2868Gly
XM_017009188.1:c.7940C>G	XP_016864677.1:p.Ala2647Gly
XM_024454388.1:c.12866C>G	XP_024310156.1:p.Ala4289Gly
XM_024454389.1:c.12455C>G	XP_024310157.1:p.Ala4152Gly
NM_001369.3:c.13853C>G MANE Select	NP_001360.1:p.Ala4618Gly