Canonical Allele Identifier: CA3204573

Gene: DNAH5

Linked Data

• dbSNP Id: rs141969815
• ExAC: 5:13891182 C / G
• gnomAD v2: 5-13891182-C-G
• gnomAD v4: 5-13891073-C-G
• MyVariant Identifiers: chr5:g.13891182C>G (hg19) ; chr5:g.13891073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13891073C>G , CM000667.2:g.13891073C>G	GRCh38
NC_000005.9:g.13891182C>G , CM000667.1:g.13891182C>G	GRCh37
NC_000005.8:g.13944182C>G	NCBI36
NG_013081.1:g.58408G>C
NG_013081.2:g.58408G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2480G>C MANE Select	ENSP00000265104.4:p.Arg827Pro
ENST00000681290.1:c.2435G>C	ENSP00000505288.1:p.Arg812Pro
ENST00000265104.4:c.2480G>C	ENSP00000265104.4:p.Arg827Pro
NM_001369.2:c.2480G>C	NP_001360.1:p.Arg827Pro
XM_005248262.2:c.2435G>C	XP_005248319.1:p.Arg812Pro
XM_011513990.1:c.2480G>C	XP_011512292.1:p.Arg827Pro
XR_925598.1:n.2687G>C
XM_005248262.3:c.2588G>C	XP_005248319.2:p.Arg863Pro
XM_017009177.1:c.2588G>C	XP_016864666.1:p.Arg863Pro
XM_017009178.1:c.1493G>C	XP_016864667.1:p.Arg498Pro
XM_017009179.2:c.1493G>C	XP_016864668.1:p.Arg498Pro
XM_017009180.1:c.2588G>C	XP_016864669.1:p.Arg863Pro
XM_017009181.1:c.2588G>C	XP_016864670.1:p.Arg863Pro
XM_017009182.1:c.2588G>C	XP_016864671.1:p.Arg863Pro
XM_017009183.1:c.2588G>C	XP_016864672.1:p.Arg863Pro
XM_017009184.1:c.2588G>C	XP_016864673.1:p.Arg863Pro
XM_017009187.1:c.2588G>C	XP_016864676.1:p.Arg863Pro
XM_024454388.1:c.1493G>C	XP_024310156.1:p.Arg498Pro
XM_024454389.1:c.1082G>C	XP_024310157.1:p.Arg361Pro
XR_001742034.1:n.2605G>C
XR_001742035.1:n.2605G>C
NM_001369.3:c.2480G>C MANE Select	NP_001360.1:p.Arg827Pro