Canonical Allele Identifier: CA359202006

Gene: DNAH5

Linked Data

• dbSNP Id: rs1302721216
• gnomAD v2: 5-13769175-T-A
• gnomAD v4: 5-13769066-T-A
• MyVariant Identifiers: chr5:g.13769175T>A (hg19) ; chr5:g.13769066T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769066T>A , CM000667.2:g.13769066T>A	GRCh38
NC_000005.9:g.13769175T>A , CM000667.1:g.13769175T>A	GRCh37
NC_000005.8:g.13822175T>A	NCBI36
NG_013081.1:g.180415A>T
NG_013081.2:g.180415A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9791A>T MANE Select	ENSP00000265104.4:p.Asp3264Val
ENST00000681290.1:c.9746A>T	ENSP00000505288.1:p.Asp3249Val
ENST00000265104.4:c.9791A>T	ENSP00000265104.4:p.Asp3264Val
ENST00000504001.3:n.503A>T
NM_001369.2:c.9791A>T	NP_001360.1:p.Asp3264Val
XM_005248262.2:c.9746A>T	XP_005248319.1:p.Asp3249Val
XM_005248262.3:c.9899A>T	XP_005248319.2:p.Asp3300Val
XM_017009177.1:c.9899A>T	XP_016864666.1:p.Asp3300Val
XM_017009178.1:c.8804A>T	XP_016864667.1:p.Asp2935Val
XM_017009179.2:c.8804A>T	XP_016864668.1:p.Asp2935Val
XM_017009180.1:c.9899A>T	XP_016864669.1:p.Asp3300Val
XM_017009181.1:c.9899A>T	XP_016864670.1:p.Asp3300Val
XM_017009182.1:c.9899A>T	XP_016864671.1:p.Asp3300Val
XM_017009185.1:c.4988A>T	XP_016864674.1:p.Asp1663Val
XM_017009186.1:c.4541A>T	XP_016864675.1:p.Asp1514Val
XM_017009188.1:c.3878A>T	XP_016864677.1:p.Asp1293Val
XM_024454388.1:c.8804A>T	XP_024310156.1:p.Asp2935Val
XM_024454389.1:c.8393A>T	XP_024310157.1:p.Asp2798Val
NM_001369.3:c.9791A>T MANE Select	NP_001360.1:p.Asp3264Val