Canonical Allele Identifier: CA3201248

Gene: DNAH5

Linked Data

• dbSNP Id: rs746612001
• ExAC: 5:13692218 A / G
• gnomAD v2: 5-13692218-A-G
• gnomAD v4: 5-13692109-A-G
• MyVariant Identifiers: chr5:g.13692218A>G (hg19) ; chr5:g.13692109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692109A>G , CM000667.2:g.13692109A>G	GRCh38
NC_000005.9:g.13692218A>G , CM000667.1:g.13692218A>G	GRCh37
NC_000005.8:g.13745218A>G	NCBI36
NG_013081.1:g.257372T>C
NG_013081.2:g.257372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1083T>C
ENST00000265104.5:c.13750T>C MANE Select	ENSP00000265104.4:p.Cys4584Arg
ENST00000681290.1:c.13705T>C	ENSP00000505288.1:p.Cys4569Arg
ENST00000265104.4:c.13750T>C	ENSP00000265104.4:p.Cys4584Arg
NM_001369.2:c.13750T>C	NP_001360.1:p.Cys4584Arg
XM_005248262.2:c.13705T>C	XP_005248319.1:p.Cys4569Arg
XM_005248262.3:c.13858T>C	XP_005248319.2:p.Cys4620Arg
XM_017009177.1:c.13438T>C	XP_016864666.1:p.Cys4480Arg
XM_017009178.1:c.12763T>C	XP_016864667.1:p.Cys4255Arg
XM_017009179.2:c.12763T>C	XP_016864668.1:p.Cys4255Arg
XM_017009185.1:c.8947T>C	XP_016864674.1:p.Cys2983Arg
XM_017009186.1:c.8500T>C	XP_016864675.1:p.Cys2834Arg
XM_017009188.1:c.7837T>C	XP_016864677.1:p.Cys2613Arg
XM_024454388.1:c.12763T>C	XP_024310156.1:p.Cys4255Arg
XM_024454389.1:c.12352T>C	XP_024310157.1:p.Cys4118Arg
NM_001369.3:c.13750T>C MANE Select	NP_001360.1:p.Cys4584Arg