Canonical Allele Identifier: CA359213063

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13721123G>C (hg19) ; chr5:g.13721014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721014G>C , CM000667.2:g.13721014G>C	GRCh38
NC_000005.9:g.13721123G>C , CM000667.1:g.13721123G>C	GRCh37
NC_000005.8:g.13774123G>C	NCBI36
NG_013081.1:g.228467C>G
NG_013081.2:g.228467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12265C>G MANE Select	ENSP00000265104.4:p.Gln4089Glu
ENST00000681290.1:c.12220C>G	ENSP00000505288.1:p.Gln4074Glu
ENST00000265104.4:c.12265C>G	ENSP00000265104.4:p.Gln4089Glu
NM_001369.2:c.12265C>G	NP_001360.1:p.Gln4089Glu
XM_005248262.2:c.12220C>G	XP_005248319.1:p.Gln4074Glu
XM_005248262.3:c.12373C>G	XP_005248319.2:p.Gln4125Glu
XM_017009177.1:c.12373C>G	XP_016864666.1:p.Gln4125Glu
XM_017009178.1:c.11278C>G	XP_016864667.1:p.Gln3760Glu
XM_017009179.2:c.11278C>G	XP_016864668.1:p.Gln3760Glu
XM_017009180.1:c.12373C>G	XP_016864669.1:p.Gln4125Glu
XM_017009185.1:c.7462C>G	XP_016864674.1:p.Gln2488Glu
XM_017009186.1:c.7015C>G	XP_016864675.1:p.Gln2339Glu
XM_017009188.1:c.6352C>G	XP_016864677.1:p.Gln2118Glu
XM_024454388.1:c.11278C>G	XP_024310156.1:p.Gln3760Glu
XM_024454389.1:c.10867C>G	XP_024310157.1:p.Gln3623Glu
NM_001369.3:c.12265C>G MANE Select	NP_001360.1:p.Gln4089Glu