Canonical Allele Identifier: CA359190119

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13752210-T-C
• MyVariant Identifiers: chr5:g.13752319T>C (hg19) ; chr5:g.13752210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752210T>C , CM000667.2:g.13752210T>C	GRCh38
NC_000005.9:g.13752319T>C , CM000667.1:g.13752319T>C	GRCh37
NC_000005.8:g.13805319T>C	NCBI36
NG_013081.1:g.197271A>G
NG_013081.2:g.197271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10952A>G MANE Select	ENSP00000265104.4:p.Asp3651Gly
ENST00000681290.1:c.10907A>G	ENSP00000505288.1:p.Asp3636Gly
ENST00000265104.4:c.10952A>G	ENSP00000265104.4:p.Asp3651Gly
NM_001369.2:c.10952A>G	NP_001360.1:p.Asp3651Gly
XM_005248262.2:c.10907A>G	XP_005248319.1:p.Asp3636Gly
XM_005248262.3:c.11060A>G	XP_005248319.2:p.Asp3687Gly
XM_017009177.1:c.11060A>G	XP_016864666.1:p.Asp3687Gly
XM_017009178.1:c.9965A>G	XP_016864667.1:p.Asp3322Gly
XM_017009179.2:c.9965A>G	XP_016864668.1:p.Asp3322Gly
XM_017009180.1:c.11060A>G	XP_016864669.1:p.Asp3687Gly
XM_017009181.1:c.11060A>G	XP_016864670.1:p.Asp3687Gly
XM_017009182.1:c.11060A>G	XP_016864671.1:p.Asp3687Gly
XM_017009185.1:c.6149A>G	XP_016864674.1:p.Asp2050Gly
XM_017009186.1:c.5702A>G	XP_016864675.1:p.Asp1901Gly
XM_017009188.1:c.5039A>G	XP_016864677.1:p.Asp1680Gly
XM_024454388.1:c.9965A>G	XP_024310156.1:p.Asp3322Gly
XM_024454389.1:c.9554A>G	XP_024310157.1:p.Asp3185Gly
NM_001369.3:c.10952A>G MANE Select	NP_001360.1:p.Asp3651Gly