Canonical Allele Identifier: CA359202258

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769208T>C (hg19) ; chr5:g.13769099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769099T>C , CM000667.2:g.13769099T>C	GRCh38
NC_000005.9:g.13769208T>C , CM000667.1:g.13769208T>C	GRCh37
NC_000005.8:g.13822208T>C	NCBI36
NG_013081.1:g.180382A>G
NG_013081.2:g.180382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9758A>G MANE Select	ENSP00000265104.4:p.Glu3253Gly
ENST00000681290.1:c.9713A>G	ENSP00000505288.1:p.Glu3238Gly
ENST00000265104.4:c.9758A>G	ENSP00000265104.4:p.Glu3253Gly
ENST00000504001.3:n.470A>G
NM_001369.2:c.9758A>G	NP_001360.1:p.Glu3253Gly
XM_005248262.2:c.9713A>G	XP_005248319.1:p.Glu3238Gly
XM_005248262.3:c.9866A>G	XP_005248319.2:p.Glu3289Gly
XM_017009177.1:c.9866A>G	XP_016864666.1:p.Glu3289Gly
XM_017009178.1:c.8771A>G	XP_016864667.1:p.Glu2924Gly
XM_017009179.2:c.8771A>G	XP_016864668.1:p.Glu2924Gly
XM_017009180.1:c.9866A>G	XP_016864669.1:p.Glu3289Gly
XM_017009181.1:c.9866A>G	XP_016864670.1:p.Glu3289Gly
XM_017009182.1:c.9866A>G	XP_016864671.1:p.Glu3289Gly
XM_017009185.1:c.4955A>G	XP_016864674.1:p.Glu1652Gly
XM_017009186.1:c.4508A>G	XP_016864675.1:p.Glu1503Gly
XM_017009188.1:c.3845A>G	XP_016864677.1:p.Glu1282Gly
XM_024454388.1:c.8771A>G	XP_024310156.1:p.Glu2924Gly
XM_024454389.1:c.8360A>G	XP_024310157.1:p.Glu2787Gly
NM_001369.3:c.9758A>G MANE Select	NP_001360.1:p.Glu3253Gly