Canonical Allele Identifier: CA359206015

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717434T>C (hg19) ; chr5:g.13717325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717325T>C , CM000667.2:g.13717325T>C	GRCh38
NC_000005.9:g.13717434T>C , CM000667.1:g.13717434T>C	GRCh37
NC_000005.8:g.13770434T>C	NCBI36
NG_013081.1:g.232156A>G
NG_013081.2:g.232156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12695A>G MANE Select	ENSP00000265104.4:p.Asp4232Gly
ENST00000681290.1:c.12650A>G	ENSP00000505288.1:p.Asp4217Gly
ENST00000265104.4:c.12695A>G	ENSP00000265104.4:p.Asp4232Gly
NM_001369.2:c.12695A>G	NP_001360.1:p.Asp4232Gly
XM_005248262.2:c.12650A>G	XP_005248319.1:p.Asp4217Gly
XM_005248262.3:c.12803A>G	XP_005248319.2:p.Asp4268Gly
XM_017009177.1:c.12803A>G	XP_016864666.1:p.Asp4268Gly
XM_017009178.1:c.11708A>G	XP_016864667.1:p.Asp3903Gly
XM_017009179.2:c.11708A>G	XP_016864668.1:p.Asp3903Gly
XM_017009180.1:c.12803A>G	XP_016864669.1:p.Asp4268Gly
XM_017009185.1:c.7892A>G	XP_016864674.1:p.Asp2631Gly
XM_017009186.1:c.7445A>G	XP_016864675.1:p.Asp2482Gly
XM_017009188.1:c.6782A>G	XP_016864677.1:p.Asp2261Gly
XM_024454388.1:c.11708A>G	XP_024310156.1:p.Asp3903Gly
XM_024454389.1:c.11297A>G	XP_024310157.1:p.Asp3766Gly
NM_001369.3:c.12695A>G MANE Select	NP_001360.1:p.Asp4232Gly