Canonical Allele Identifier: CA443248620

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692120C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692011C>G , CM000667.2:g.13692011C>G	GRCh38
NC_000005.9:g.13692120C>G , CM000667.1:g.13692120C>G	GRCh37
NC_000005.8:g.13745120C>G	NCBI36
NG_013081.1:g.257470G>C
NG_013081.2:g.257470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1181G>C
ENST00000265104.5:c.13848G>C MANE Select	ENSP00000265104.4:p.Gly4616=
ENST00000681290.1:c.13803G>C	ENSP00000505288.1:p.Gly4601=
ENST00000265104.4:c.13848G>C	ENSP00000265104.4:p.Gly4616=
NM_001369.2:c.13848G>C	NP_001360.1:p.Gly4616=
XM_005248262.2:c.13803G>C	XP_005248319.1:p.Gly4601=
XM_005248262.3:c.13956G>C	XP_005248319.2:p.Gly4652=
XM_017009177.1:c.13536G>C	XP_016864666.1:p.Gly4512=
XM_017009178.1:c.12861G>C	XP_016864667.1:p.Gly4287=
XM_017009179.2:c.12861G>C	XP_016864668.1:p.Gly4287=
XM_017009185.1:c.9045G>C	XP_016864674.1:p.Gly3015=
XM_017009186.1:c.8598G>C	XP_016864675.1:p.Gly2866=
XM_017009188.1:c.7935G>C	XP_016864677.1:p.Gly2645=
XM_024454388.1:c.12861G>C	XP_024310156.1:p.Gly4287=
XM_024454389.1:c.12450G>C	XP_024310157.1:p.Gly4150=
NM_001369.3:c.13848G>C MANE Select	NP_001360.1:p.Gly4616=