Canonical Allele Identifier: CA359196975

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708317A>G (hg19) ; chr5:g.13708208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708208A>G , CM000667.2:g.13708208A>G	GRCh38
NC_000005.9:g.13708317A>G , CM000667.1:g.13708317A>G	GRCh37
NC_000005.8:g.13761317A>G	NCBI36
NG_013081.1:g.241273T>C
NG_013081.2:g.241273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.586T>C
ENST00000265104.5:c.13253T>C MANE Select	ENSP00000265104.4:p.Ile4418Thr
ENST00000681290.1:c.13208T>C	ENSP00000505288.1:p.Ile4403Thr
ENST00000265104.4:c.13253T>C	ENSP00000265104.4:p.Ile4418Thr
NM_001369.2:c.13253T>C	NP_001360.1:p.Ile4418Thr
XM_005248262.2:c.13208T>C	XP_005248319.1:p.Ile4403Thr
XM_005248262.3:c.13361T>C	XP_005248319.2:p.Ile4454Thr
XM_017009177.1:c.12941T>C	XP_016864666.1:p.Ile4314Thr
XM_017009178.1:c.12266T>C	XP_016864667.1:p.Ile4089Thr
XM_017009179.2:c.12266T>C	XP_016864668.1:p.Ile4089Thr
XM_017009185.1:c.8450T>C	XP_016864674.1:p.Ile2817Thr
XM_017009186.1:c.8003T>C	XP_016864675.1:p.Ile2668Thr
XM_017009188.1:c.7340T>C	XP_016864677.1:p.Ile2447Thr
XM_024454388.1:c.12266T>C	XP_024310156.1:p.Ile4089Thr
XM_024454389.1:c.11855T>C	XP_024310157.1:p.Ile3952Thr
NM_001369.3:c.13253T>C MANE Select	NP_001360.1:p.Ile4418Thr