Canonical Allele Identifier: CA359188487

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692098T>C (hg19) ; chr5:g.13691989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691989T>C , CM000667.2:g.13691989T>C	GRCh38
NC_000005.9:g.13692098T>C , CM000667.1:g.13692098T>C	GRCh37
NC_000005.8:g.13745098T>C	NCBI36
NG_013081.1:g.257492A>G
NG_013081.2:g.257492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1203A>G
ENST00000265104.5:c.13870A>G MANE Select	ENSP00000265104.4:p.Lys4624Glu
ENST00000681290.1:c.13825A>G	ENSP00000505288.1:p.Lys4609Glu
ENST00000265104.4:c.13870A>G	ENSP00000265104.4:p.Lys4624Glu
NM_001369.2:c.13870A>G	NP_001360.1:p.Lys4624Glu
XM_005248262.2:c.13825A>G	XP_005248319.1:p.Lys4609Glu
XM_005248262.3:c.13978A>G	XP_005248319.2:p.Lys4660Glu
XM_017009177.1:c.13558A>G	XP_016864666.1:p.Lys4520Glu
XM_017009178.1:c.12883A>G	XP_016864667.1:p.Lys4295Glu
XM_017009179.2:c.12883A>G	XP_016864668.1:p.Lys4295Glu
XM_017009185.1:c.9067A>G	XP_016864674.1:p.Lys3023Glu
XM_017009186.1:c.8620A>G	XP_016864675.1:p.Lys2874Glu
XM_017009188.1:c.7957A>G	XP_016864677.1:p.Lys2653Glu
XM_024454388.1:c.12883A>G	XP_024310156.1:p.Lys4295Glu
XM_024454389.1:c.12472A>G	XP_024310157.1:p.Lys4158Glu
NM_001369.3:c.13870A>G MANE Select	NP_001360.1:p.Lys4624Glu