Canonical Allele Identifier: CA359223040

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13735205-G-C
• MyVariant Identifiers: chr5:g.13735314G>C (hg19) ; chr5:g.13735205G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735205G>C , CM000667.2:g.13735205G>C	GRCh38
NC_000005.9:g.13735314G>C , CM000667.1:g.13735314G>C	GRCh37
NC_000005.8:g.13788314G>C	NCBI36
NG_013081.1:g.214276C>G
NG_013081.2:g.214276C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11687C>G MANE Select	ENSP00000265104.4:p.Thr3896Ser
ENST00000681290.1:c.11642C>G	ENSP00000505288.1:p.Thr3881Ser
ENST00000265104.4:c.11687C>G	ENSP00000265104.4:p.Thr3896Ser
NM_001369.2:c.11687C>G	NP_001360.1:p.Thr3896Ser
XM_005248262.2:c.11642C>G	XP_005248319.1:p.Thr3881Ser
XM_005248262.3:c.11795C>G	XP_005248319.2:p.Thr3932Ser
XM_017009177.1:c.11795C>G	XP_016864666.1:p.Thr3932Ser
XM_017009178.1:c.10700C>G	XP_016864667.1:p.Thr3567Ser
XM_017009179.2:c.10700C>G	XP_016864668.1:p.Thr3567Ser
XM_017009180.1:c.11795C>G	XP_016864669.1:p.Thr3932Ser
XM_017009181.1:c.11795C>G	XP_016864670.1:p.Thr3932Ser
XM_017009185.1:c.6884C>G	XP_016864674.1:p.Thr2295Ser
XM_017009186.1:c.6437C>G	XP_016864675.1:p.Thr2146Ser
XM_017009188.1:c.5774C>G	XP_016864677.1:p.Thr1925Ser
XM_024454388.1:c.10700C>G	XP_024310156.1:p.Thr3567Ser
XM_024454389.1:c.10289C>G	XP_024310157.1:p.Thr3430Ser
NM_001369.3:c.11687C>G MANE Select	NP_001360.1:p.Thr3896Ser