Canonical Allele Identifier: CA113932995

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1459867
• ClinVar RCV Id: RCV001982925
• dbSNP Id: rs185605880
• gnomAD v4: 5-13770865-A-G
• MyVariant Identifiers: chr5:g.13770974A>G (hg19) ; chr5:g.13770865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770865A>G , CM000667.2:g.13770865A>G	GRCh38
NC_000005.9:g.13770974A>G , CM000667.1:g.13770974A>G	GRCh37
NC_000005.8:g.13823974A>G	NCBI36
NG_013081.1:g.178616T>C
NG_013081.2:g.178616T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9489T>C MANE Select	ENSP00000265104.4:p.Tyr3163=
ENST00000681290.1:c.9444T>C	ENSP00000505288.1:p.Tyr3148=
ENST00000265104.4:c.9489T>C	ENSP00000265104.4:p.Tyr3163=
ENST00000504001.3:n.201T>C
NM_001369.2:c.9489T>C	NP_001360.1:p.Tyr3163=
XM_005248262.2:c.9444T>C	XP_005248319.1:p.Tyr3148=
XM_005248262.3:c.9597T>C	XP_005248319.2:p.Tyr3199=
XM_017009177.1:c.9597T>C	XP_016864666.1:p.Tyr3199=
XM_017009178.1:c.8502T>C	XP_016864667.1:p.Tyr2834=
XM_017009179.2:c.8502T>C	XP_016864668.1:p.Tyr2834=
XM_017009180.1:c.9597T>C	XP_016864669.1:p.Tyr3199=
XM_017009181.1:c.9597T>C	XP_016864670.1:p.Tyr3199=
XM_017009182.1:c.9597T>C	XP_016864671.1:p.Tyr3199=
XM_017009183.1:c.9597T>C	XP_016864672.1:p.Tyr3199=
XM_017009185.1:c.4686T>C	XP_016864674.1:p.Tyr1562=
XM_017009186.1:c.4239T>C	XP_016864675.1:p.Tyr1413=
XM_017009188.1:c.3576T>C	XP_016864677.1:p.Tyr1192=
XM_024454388.1:c.8502T>C	XP_024310156.1:p.Tyr2834=
XM_024454389.1:c.8091T>C	XP_024310157.1:p.Tyr2697=
NM_001369.3:c.9489T>C MANE Select	NP_001360.1:p.Tyr3163=