Canonical Allele Identifier: CA359205972

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717324-A-C
• MyVariant Identifiers: chr5:g.13717433A>C (hg19) ; chr5:g.13717324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717324A>C , CM000667.2:g.13717324A>C	GRCh38
NC_000005.9:g.13717433A>C , CM000667.1:g.13717433A>C	GRCh37
NC_000005.8:g.13770433A>C	NCBI36
NG_013081.1:g.232157T>G
NG_013081.2:g.232157T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12696T>G MANE Select	ENSP00000265104.4:p.Asp4232Glu
ENST00000681290.1:c.12651T>G	ENSP00000505288.1:p.Asp4217Glu
ENST00000265104.4:c.12696T>G	ENSP00000265104.4:p.Asp4232Glu
NM_001369.2:c.12696T>G	NP_001360.1:p.Asp4232Glu
XM_005248262.2:c.12651T>G	XP_005248319.1:p.Asp4217Glu
XM_005248262.3:c.12804T>G	XP_005248319.2:p.Asp4268Glu
XM_017009177.1:c.12804T>G	XP_016864666.1:p.Asp4268Glu
XM_017009178.1:c.11709T>G	XP_016864667.1:p.Asp3903Glu
XM_017009179.2:c.11709T>G	XP_016864668.1:p.Asp3903Glu
XM_017009180.1:c.12804T>G	XP_016864669.1:p.Asp4268Glu
XM_017009185.1:c.7893T>G	XP_016864674.1:p.Asp2631Glu
XM_017009186.1:c.7446T>G	XP_016864675.1:p.Asp2482Glu
XM_017009188.1:c.6783T>G	XP_016864677.1:p.Asp2261Glu
XM_024454388.1:c.11709T>G	XP_024310156.1:p.Asp3903Glu
XM_024454389.1:c.11298T>G	XP_024310157.1:p.Asp3766Glu
NM_001369.3:c.12696T>G MANE Select	NP_001360.1:p.Asp4232Glu