Canonical Allele Identifier: CA359202274

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769209C>G (hg19) ; chr5:g.13769100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769100C>G , CM000667.2:g.13769100C>G	GRCh38
NC_000005.9:g.13769209C>G , CM000667.1:g.13769209C>G	GRCh37
NC_000005.8:g.13822209C>G	NCBI36
NG_013081.1:g.180381G>C
NG_013081.2:g.180381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9757G>C MANE Select	ENSP00000265104.4:p.Glu3253Gln
ENST00000681290.1:c.9712G>C	ENSP00000505288.1:p.Glu3238Gln
ENST00000265104.4:c.9757G>C	ENSP00000265104.4:p.Glu3253Gln
ENST00000504001.3:n.469G>C
NM_001369.2:c.9757G>C	NP_001360.1:p.Glu3253Gln
XM_005248262.2:c.9712G>C	XP_005248319.1:p.Glu3238Gln
XM_005248262.3:c.9865G>C	XP_005248319.2:p.Glu3289Gln
XM_017009177.1:c.9865G>C	XP_016864666.1:p.Glu3289Gln
XM_017009178.1:c.8770G>C	XP_016864667.1:p.Glu2924Gln
XM_017009179.2:c.8770G>C	XP_016864668.1:p.Glu2924Gln
XM_017009180.1:c.9865G>C	XP_016864669.1:p.Glu3289Gln
XM_017009181.1:c.9865G>C	XP_016864670.1:p.Glu3289Gln
XM_017009182.1:c.9865G>C	XP_016864671.1:p.Glu3289Gln
XM_017009185.1:c.4954G>C	XP_016864674.1:p.Glu1652Gln
XM_017009186.1:c.4507G>C	XP_016864675.1:p.Glu1503Gln
XM_017009188.1:c.3844G>C	XP_016864677.1:p.Glu1282Gln
XM_024454388.1:c.8770G>C	XP_024310156.1:p.Glu2924Gln
XM_024454389.1:c.8359G>C	XP_024310157.1:p.Glu2787Gln
NM_001369.3:c.9757G>C MANE Select	NP_001360.1:p.Glu3253Gln