Canonical Allele Identifier: CA359196689

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708285G>C (hg19) ; chr5:g.13708176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708176G>C , CM000667.2:g.13708176G>C	GRCh38
NC_000005.9:g.13708285G>C , CM000667.1:g.13708285G>C	GRCh37
NC_000005.8:g.13761285G>C	NCBI36
NG_013081.1:g.241305C>G
NG_013081.2:g.241305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.618C>G
ENST00000265104.5:c.13285C>G MANE Select	ENSP00000265104.4:p.Arg4429Gly
ENST00000681290.1:c.13240C>G	ENSP00000505288.1:p.Arg4414Gly
ENST00000265104.4:c.13285C>G	ENSP00000265104.4:p.Arg4429Gly
NM_001369.2:c.13285C>G	NP_001360.1:p.Arg4429Gly
XM_005248262.2:c.13240C>G	XP_005248319.1:p.Arg4414Gly
XM_005248262.3:c.13393C>G	XP_005248319.2:p.Arg4465Gly
XM_017009177.1:c.12973C>G	XP_016864666.1:p.Arg4325Gly
XM_017009178.1:c.12298C>G	XP_016864667.1:p.Arg4100Gly
XM_017009179.2:c.12298C>G	XP_016864668.1:p.Arg4100Gly
XM_017009185.1:c.8482C>G	XP_016864674.1:p.Arg2828Gly
XM_017009186.1:c.8035C>G	XP_016864675.1:p.Arg2679Gly
XM_017009188.1:c.7372C>G	XP_016864677.1:p.Arg2458Gly
XM_024454388.1:c.12298C>G	XP_024310156.1:p.Arg4100Gly
XM_024454389.1:c.11887C>G	XP_024310157.1:p.Arg3963Gly
NM_001369.3:c.13285C>G MANE Select	NP_001360.1:p.Arg4429Gly