Canonical Allele Identifier: CA359197586

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708374C>T (hg19) ; chr5:g.13708265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708265C>T , CM000667.2:g.13708265C>T	GRCh38
NC_000005.9:g.13708374C>T , CM000667.1:g.13708374C>T	GRCh37
NC_000005.8:g.13761374C>T	NCBI36
NG_013081.1:g.241216G>A
NG_013081.2:g.241216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.529G>A
ENST00000265104.5:c.13196G>A MANE Select	ENSP00000265104.4:p.Arg4399Lys
ENST00000681290.1:c.13151G>A	ENSP00000505288.1:p.Arg4384Lys
ENST00000265104.4:c.13196G>A	ENSP00000265104.4:p.Arg4399Lys
NM_001369.2:c.13196G>A	NP_001360.1:p.Arg4399Lys
XM_005248262.2:c.13151G>A	XP_005248319.1:p.Arg4384Lys
XM_005248262.3:c.13304G>A	XP_005248319.2:p.Arg4435Lys
XM_017009177.1:c.12884G>A	XP_016864666.1:p.Arg4295Lys
XM_017009178.1:c.12209G>A	XP_016864667.1:p.Arg4070Lys
XM_017009179.2:c.12209G>A	XP_016864668.1:p.Arg4070Lys
XM_017009185.1:c.8393G>A	XP_016864674.1:p.Arg2798Lys
XM_017009186.1:c.7946G>A	XP_016864675.1:p.Arg2649Lys
XM_017009188.1:c.7283G>A	XP_016864677.1:p.Arg2428Lys
XM_024454388.1:c.12209G>A	XP_024310156.1:p.Arg4070Lys
XM_024454389.1:c.11798G>A	XP_024310157.1:p.Arg3933Lys
NM_001369.3:c.13196G>A MANE Select	NP_001360.1:p.Arg4399Lys