Canonical Allele Identifier: CA359188497

Gene: DNAH5

Linked Data

• COSMIC: COSM3138823
• MyVariant Identifiers: chr5:g.13692103T>A (hg19) ; chr5:g.13691994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691994T>A , CM000667.2:g.13691994T>A	GRCh38
NC_000005.9:g.13692103T>A , CM000667.1:g.13692103T>A	GRCh37
NC_000005.8:g.13745103T>A	NCBI36
NG_013081.1:g.257487A>T
NG_013081.2:g.257487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1198A>T
ENST00000265104.5:c.13865A>T MANE Select	ENSP00000265104.4:p.Asp4622Val
ENST00000681290.1:c.13820A>T	ENSP00000505288.1:p.Asp4607Val
ENST00000265104.4:c.13865A>T	ENSP00000265104.4:p.Asp4622Val
NM_001369.2:c.13865A>T	NP_001360.1:p.Asp4622Val
XM_005248262.2:c.13820A>T	XP_005248319.1:p.Asp4607Val
XM_005248262.3:c.13973A>T	XP_005248319.2:p.Asp4658Val
XM_017009177.1:c.13553A>T	XP_016864666.1:p.Asp4518Val
XM_017009178.1:c.12878A>T	XP_016864667.1:p.Asp4293Val
XM_017009179.2:c.12878A>T	XP_016864668.1:p.Asp4293Val
XM_017009185.1:c.9062A>T	XP_016864674.1:p.Asp3021Val
XM_017009186.1:c.8615A>T	XP_016864675.1:p.Asp2872Val
XM_017009188.1:c.7952A>T	XP_016864677.1:p.Asp2651Val
XM_024454388.1:c.12878A>T	XP_024310156.1:p.Asp4293Val
XM_024454389.1:c.12467A>T	XP_024310157.1:p.Asp4156Val
NM_001369.3:c.13865A>T MANE Select	NP_001360.1:p.Asp4622Val