Canonical Allele Identifier: CA3204718

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2086150
• ClinVar RCV Id: RCV003007341
• dbSNP Id: rs746476934
• ExAC: 5:13901517 C / G
• gnomAD v2: 5-13901517-C-G
• gnomAD v4: 5-13901408-C-G
• MyVariant Identifiers: chr5:g.13901517C>G (hg19) ; chr5:g.13901408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901408C>G , CM000667.2:g.13901408C>G	GRCh38
NC_000005.9:g.13901517C>G , CM000667.1:g.13901517C>G	GRCh37
NC_000005.8:g.13954517C>G	NCBI36
NG_013081.1:g.48073G>C
NG_013081.2:g.48073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1896G>C MANE Select	ENSP00000265104.4:p.Gln632His
ENST00000681290.1:c.1851G>C	ENSP00000505288.1:p.Gln617His
ENST00000265104.4:c.1896G>C	ENSP00000265104.4:p.Gln632His
NM_001369.2:c.1896G>C	NP_001360.1:p.Gln632His
XM_005248262.2:c.1851G>C	XP_005248319.1:p.Gln617His
XM_011513990.1:c.1896G>C	XP_011512292.1:p.Gln632His
XR_925598.1:n.2103G>C
XM_005248262.3:c.2004G>C	XP_005248319.2:p.Gln668His
XM_017009177.1:c.2004G>C	XP_016864666.1:p.Gln668His
XM_017009178.1:c.909G>C	XP_016864667.1:p.Gln303His
XM_017009179.2:c.909G>C	XP_016864668.1:p.Gln303His
XM_017009180.1:c.2004G>C	XP_016864669.1:p.Gln668His
XM_017009181.1:c.2004G>C	XP_016864670.1:p.Gln668His
XM_017009182.1:c.2004G>C	XP_016864671.1:p.Gln668His
XM_017009183.1:c.2004G>C	XP_016864672.1:p.Gln668His
XM_017009184.1:c.2004G>C	XP_016864673.1:p.Gln668His
XM_017009187.1:c.2004G>C	XP_016864676.1:p.Gln668His
XM_024454388.1:c.909G>C	XP_024310156.1:p.Gln303His
XM_024454389.1:c.498G>C	XP_024310157.1:p.Gln166His
XR_001742034.1:n.2021G>C
XR_001742035.1:n.2021G>C
NM_001369.3:c.1896G>C MANE Select	NP_001360.1:p.Gln632His