Canonical Allele Identifier: CA359196731

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708290T>G (hg19) ; chr5:g.13708181T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708181T>G , CM000667.2:g.13708181T>G	GRCh38
NC_000005.9:g.13708290T>G , CM000667.1:g.13708290T>G	GRCh37
NC_000005.8:g.13761290T>G	NCBI36
NG_013081.1:g.241300A>C
NG_013081.2:g.241300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.613A>C
ENST00000265104.5:c.13280A>C MANE Select	ENSP00000265104.4:p.Asn4427Thr
ENST00000681290.1:c.13235A>C	ENSP00000505288.1:p.Asn4412Thr
ENST00000265104.4:c.13280A>C	ENSP00000265104.4:p.Asn4427Thr
NM_001369.2:c.13280A>C	NP_001360.1:p.Asn4427Thr
XM_005248262.2:c.13235A>C	XP_005248319.1:p.Asn4412Thr
XM_005248262.3:c.13388A>C	XP_005248319.2:p.Asn4463Thr
XM_017009177.1:c.12968A>C	XP_016864666.1:p.Asn4323Thr
XM_017009178.1:c.12293A>C	XP_016864667.1:p.Asn4098Thr
XM_017009179.2:c.12293A>C	XP_016864668.1:p.Asn4098Thr
XM_017009185.1:c.8477A>C	XP_016864674.1:p.Asn2826Thr
XM_017009186.1:c.8030A>C	XP_016864675.1:p.Asn2677Thr
XM_017009188.1:c.7367A>C	XP_016864677.1:p.Asn2456Thr
XM_024454388.1:c.12293A>C	XP_024310156.1:p.Asn4098Thr
XM_024454389.1:c.11882A>C	XP_024310157.1:p.Asn3961Thr
NM_001369.3:c.13280A>C MANE Select	NP_001360.1:p.Asn4427Thr