Canonical Allele Identifier: CA113905443

Gene: DNAH5

Linked Data

• dbSNP Id: rs778096108
• MyVariant Identifiers: chr5:g.13692118A>T (hg19) ; chr5:g.13692009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692009A>T , CM000667.2:g.13692009A>T	GRCh38
NC_000005.9:g.13692118A>T , CM000667.1:g.13692118A>T	GRCh37
NC_000005.8:g.13745118A>T	NCBI36
NG_013081.1:g.257472T>A
NG_013081.2:g.257472T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1183T>A
ENST00000265104.5:c.13850T>A MANE Select	ENSP00000265104.4:p.Val4617Asp
ENST00000681290.1:c.13805T>A	ENSP00000505288.1:p.Val4602Asp
ENST00000265104.4:c.13850T>A	ENSP00000265104.4:p.Val4617Asp
NM_001369.2:c.13850T>A	NP_001360.1:p.Val4617Asp
XM_005248262.2:c.13805T>A	XP_005248319.1:p.Val4602Asp
XM_005248262.3:c.13958T>A	XP_005248319.2:p.Val4653Asp
XM_017009177.1:c.13538T>A	XP_016864666.1:p.Val4513Asp
XM_017009178.1:c.12863T>A	XP_016864667.1:p.Val4288Asp
XM_017009179.2:c.12863T>A	XP_016864668.1:p.Val4288Asp
XM_017009185.1:c.9047T>A	XP_016864674.1:p.Val3016Asp
XM_017009186.1:c.8600T>A	XP_016864675.1:p.Val2867Asp
XM_017009188.1:c.7937T>A	XP_016864677.1:p.Val2646Asp
XM_024454388.1:c.12863T>A	XP_024310156.1:p.Val4288Asp
XM_024454389.1:c.12452T>A	XP_024310157.1:p.Val4151Asp
NM_001369.3:c.13850T>A MANE Select	NP_001360.1:p.Val4617Asp