Canonical Allele Identifier: CA359189725

Gene: DNAH5

Linked Data

• dbSNP Id: rs1230162114
• gnomAD v2: 5-13752268-A-C
• gnomAD v4: 5-13752159-A-C
• MyVariant Identifiers: chr5:g.13752268A>C (hg19) ; chr5:g.13752159A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752159A>C , CM000667.2:g.13752159A>C	GRCh38
NC_000005.9:g.13752268A>C , CM000667.1:g.13752268A>C	GRCh37
NC_000005.8:g.13805268A>C	NCBI36
NG_013081.1:g.197322T>G
NG_013081.2:g.197322T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11003T>G MANE Select	ENSP00000265104.4:p.Phe3668Cys
ENST00000681290.1:c.10958T>G	ENSP00000505288.1:p.Phe3653Cys
ENST00000265104.4:c.11003T>G	ENSP00000265104.4:p.Phe3668Cys
NM_001369.2:c.11003T>G	NP_001360.1:p.Phe3668Cys
XM_005248262.2:c.10958T>G	XP_005248319.1:p.Phe3653Cys
XM_005248262.3:c.11111T>G	XP_005248319.2:p.Phe3704Cys
XM_017009177.1:c.11111T>G	XP_016864666.1:p.Phe3704Cys
XM_017009178.1:c.10016T>G	XP_016864667.1:p.Phe3339Cys
XM_017009179.2:c.10016T>G	XP_016864668.1:p.Phe3339Cys
XM_017009180.1:c.11111T>G	XP_016864669.1:p.Phe3704Cys
XM_017009181.1:c.11111T>G	XP_016864670.1:p.Phe3704Cys
XM_017009182.1:c.11111T>G	XP_016864671.1:p.Phe3704Cys
XM_017009185.1:c.6200T>G	XP_016864674.1:p.Phe2067Cys
XM_017009186.1:c.5753T>G	XP_016864675.1:p.Phe1918Cys
XM_017009188.1:c.5090T>G	XP_016864677.1:p.Phe1697Cys
XM_024454388.1:c.10016T>G	XP_024310156.1:p.Phe3339Cys
XM_024454389.1:c.9605T>G	XP_024310157.1:p.Phe3202Cys
NM_001369.3:c.11003T>G MANE Select	NP_001360.1:p.Phe3668Cys