Canonical Allele Identifier: CA359201701

Gene: DNAH5

Linked Data

• dbSNP Id: rs1006931135
• gnomAD v2: 5-13769129-A-C
• gnomAD v3: 5-13769020-A-C
• gnomAD v4: 5-13769020-A-C
• MyVariant Identifiers: chr5:g.13769129A>C (hg19) ; chr5:g.13769020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769020A>C , CM000667.2:g.13769020A>C	GRCh38
NC_000005.9:g.13769129A>C , CM000667.1:g.13769129A>C	GRCh37
NC_000005.8:g.13822129A>C	NCBI36
NG_013081.1:g.180461T>G
NG_013081.2:g.180461T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9837T>G MANE Select	ENSP00000265104.4:p.Ile3279Met
ENST00000681290.1:c.9792T>G	ENSP00000505288.1:p.Ile3264Met
ENST00000265104.4:c.9837T>G	ENSP00000265104.4:p.Ile3279Met
ENST00000504001.3:n.549T>G
NM_001369.2:c.9837T>G	NP_001360.1:p.Ile3279Met
XM_005248262.2:c.9792T>G	XP_005248319.1:p.Ile3264Met
XM_005248262.3:c.9945T>G	XP_005248319.2:p.Ile3315Met
XM_017009177.1:c.9945T>G	XP_016864666.1:p.Ile3315Met
XM_017009178.1:c.8850T>G	XP_016864667.1:p.Ile2950Met
XM_017009179.2:c.8850T>G	XP_016864668.1:p.Ile2950Met
XM_017009180.1:c.9945T>G	XP_016864669.1:p.Ile3315Met
XM_017009181.1:c.9945T>G	XP_016864670.1:p.Ile3315Met
XM_017009182.1:c.9945T>G	XP_016864671.1:p.Ile3315Met
XM_017009185.1:c.5034T>G	XP_016864674.1:p.Ile1678Met
XM_017009186.1:c.4587T>G	XP_016864675.1:p.Ile1529Met
XM_017009188.1:c.3924T>G	XP_016864677.1:p.Ile1308Met
XM_024454388.1:c.8850T>G	XP_024310156.1:p.Ile2950Met
XM_024454389.1:c.8439T>G	XP_024310157.1:p.Ile2813Met
NM_001369.3:c.9837T>G MANE Select	NP_001360.1:p.Ile3279Met