Canonical Allele Identifier: CA443536675

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2165123
• ClinVar RCV Id: RCV003088381
• dbSNP Id: rs1244645972
• gnomAD v4: 5-13901279-G-C
• MyVariant Identifiers: chr5:g.13901388G>C (hg19) ; chr5:g.13901279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901279G>C , CM000667.2:g.13901279G>C	GRCh38
NC_000005.9:g.13901388G>C , CM000667.1:g.13901388G>C	GRCh37
NC_000005.8:g.13954388G>C	NCBI36
NG_013081.1:g.48202C>G
NG_013081.2:g.48202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2025C>G MANE Select	ENSP00000265104.4:p.Val675=
ENST00000681290.1:c.1980C>G	ENSP00000505288.1:p.Val660=
ENST00000265104.4:c.2025C>G	ENSP00000265104.4:p.Val675=
NM_001369.2:c.2025C>G	NP_001360.1:p.Val675=
XM_005248262.2:c.1980C>G	XP_005248319.1:p.Val660=
XM_011513990.1:c.2025C>G	XP_011512292.1:p.Val675=
XR_925598.1:n.2232C>G
XM_005248262.3:c.2133C>G	XP_005248319.2:p.Val711=
XM_017009177.1:c.2133C>G	XP_016864666.1:p.Val711=
XM_017009178.1:c.1038C>G	XP_016864667.1:p.Val346=
XM_017009179.2:c.1038C>G	XP_016864668.1:p.Val346=
XM_017009180.1:c.2133C>G	XP_016864669.1:p.Val711=
XM_017009181.1:c.2133C>G	XP_016864670.1:p.Val711=
XM_017009182.1:c.2133C>G	XP_016864671.1:p.Val711=
XM_017009183.1:c.2133C>G	XP_016864672.1:p.Val711=
XM_017009184.1:c.2133C>G	XP_016864673.1:p.Val711=
XM_017009187.1:c.2133C>G	XP_016864676.1:p.Val711=
XM_024454388.1:c.1038C>G	XP_024310156.1:p.Val346=
XM_024454389.1:c.627C>G	XP_024310157.1:p.Val209=
XR_001742034.1:n.2150C>G
XR_001742035.1:n.2150C>G
NM_001369.3:c.2025C>G MANE Select	NP_001360.1:p.Val675=