Canonical Allele Identifier: CA359218790

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1766435
• ClinVar RCV Id: RCV002371476
• dbSNP Id: rs1776986431
• gnomAD v3: 5-13919223-T-G
• gnomAD v4: 5-13919223-T-G
• MyVariant Identifiers: chr5:g.13919332T>G (hg19) ; chr5:g.13919223T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919223T>G , CM000667.2:g.13919223T>G	GRCh38
NC_000005.9:g.13919332T>G , CM000667.1:g.13919332T>G	GRCh37
NC_000005.8:g.13972332T>G	NCBI36
NG_013081.1:g.30258A>C
NG_013081.2:g.30258A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.984A>C
ENST00000682376.1:n.972A>C
ENST00000682586.1:n.1021A>C
ENST00000683011.1:n.867A>C
ENST00000683967.1:n.1027A>C
ENST00000684013.1:n.1027A>C
ENST00000684099.1:n.1023A>C
ENST00000265104.5:c.928A>C MANE Select	ENSP00000265104.4:p.Lys310Gln
ENST00000680213.1:c.688A>C	ENSP00000506622.1:p.Lys230Gln
ENST00000681290.1:c.883A>C	ENSP00000505288.1:p.Lys295Gln
ENST00000265104.4:c.928A>C	ENSP00000265104.4:p.Lys310Gln
ENST00000508040.1:n.1336A>C
NM_001369.2:c.928A>C	NP_001360.1:p.Lys310Gln
XM_005248262.2:c.883A>C	XP_005248319.1:p.Lys295Gln
XM_011513990.1:c.928A>C	XP_011512292.1:p.Lys310Gln
XR_925598.1:n.1135A>C
XM_005248262.3:c.1036A>C	XP_005248319.2:p.Lys346Gln
XM_017009177.1:c.1036A>C	XP_016864666.1:p.Lys346Gln
XM_017009178.1:c.-60A>C	XP_016864667.1:n.-60A>C
XM_017009180.1:c.1036A>C	XP_016864669.1:p.Lys346Gln
XM_017009181.1:c.1036A>C	XP_016864670.1:p.Lys346Gln
XM_017009182.1:c.1036A>C	XP_016864671.1:p.Lys346Gln
XM_017009183.1:c.1036A>C	XP_016864672.1:p.Lys346Gln
XM_017009184.1:c.1036A>C	XP_016864673.1:p.Lys346Gln
XM_017009187.1:c.1036A>C	XP_016864676.1:p.Lys346Gln
XM_024454388.1:c.-1979A>C	XP_024310156.1:n.-1979A>C
XM_024454389.1:c.-1032A>C	XP_024310157.1:n.-1032A>C
XR_001742034.1:n.1053A>C
XR_001742035.1:n.1053A>C
NM_001369.3:c.928A>C MANE Select	NP_001360.1:p.Lys310Gln