Canonical Allele Identifier: CA359201963

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769060-G-C
• MyVariant Identifiers: chr5:g.13769169G>C (hg19) ; chr5:g.13769060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769060G>C , CM000667.2:g.13769060G>C	GRCh38
NC_000005.9:g.13769169G>C , CM000667.1:g.13769169G>C	GRCh37
NC_000005.8:g.13822169G>C	NCBI36
NG_013081.1:g.180421C>G
NG_013081.2:g.180421C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9797C>G MANE Select	ENSP00000265104.4:p.Ala3266Gly
ENST00000681290.1:c.9752C>G	ENSP00000505288.1:p.Ala3251Gly
ENST00000265104.4:c.9797C>G	ENSP00000265104.4:p.Ala3266Gly
ENST00000504001.3:n.509C>G
NM_001369.2:c.9797C>G	NP_001360.1:p.Ala3266Gly
XM_005248262.2:c.9752C>G	XP_005248319.1:p.Ala3251Gly
XM_005248262.3:c.9905C>G	XP_005248319.2:p.Ala3302Gly
XM_017009177.1:c.9905C>G	XP_016864666.1:p.Ala3302Gly
XM_017009178.1:c.8810C>G	XP_016864667.1:p.Ala2937Gly
XM_017009179.2:c.8810C>G	XP_016864668.1:p.Ala2937Gly
XM_017009180.1:c.9905C>G	XP_016864669.1:p.Ala3302Gly
XM_017009181.1:c.9905C>G	XP_016864670.1:p.Ala3302Gly
XM_017009182.1:c.9905C>G	XP_016864671.1:p.Ala3302Gly
XM_017009185.1:c.4994C>G	XP_016864674.1:p.Ala1665Gly
XM_017009186.1:c.4547C>G	XP_016864675.1:p.Ala1516Gly
XM_017009188.1:c.3884C>G	XP_016864677.1:p.Ala1295Gly
XM_024454388.1:c.8810C>G	XP_024310156.1:p.Ala2937Gly
XM_024454389.1:c.8399C>G	XP_024310157.1:p.Ala2800Gly
NM_001369.3:c.9797C>G MANE Select	NP_001360.1:p.Ala3266Gly