Canonical Allele Identifier: CA359196728

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.613A>G
ENST00000265104.5:c.13280A>G MANE Select	ENSP00000265104.4:p.Asn4427Ser
ENST00000681290.1:c.13235A>G	ENSP00000505288.1:p.Asn4412Ser
ENST00000265104.4:c.13280A>G	ENSP00000265104.4:p.Asn4427Ser
NM_001369.2:c.13280A>G	NP_001360.1:p.Asn4427Ser
XM_005248262.2:c.13235A>G	XP_005248319.1:p.Asn4412Ser
XM_005248262.3:c.13388A>G	XP_005248319.2:p.Asn4463Ser
XM_017009177.1:c.12968A>G	XP_016864666.1:p.Asn4323Ser
XM_017009178.1:c.12293A>G	XP_016864667.1:p.Asn4098Ser
XM_017009179.2:c.12293A>G	XP_016864668.1:p.Asn4098Ser
XM_017009185.1:c.8477A>G	XP_016864674.1:p.Asn2826Ser
XM_017009186.1:c.8030A>G	XP_016864675.1:p.Asn2677Ser
XM_017009188.1:c.7367A>G	XP_016864677.1:p.Asn2456Ser
XM_024454388.1:c.12293A>G	XP_024310156.1:p.Asn4098Ser
XM_024454389.1:c.11882A>G	XP_024310157.1:p.Asn3961Ser
NM_001369.3:c.13280A>G MANE Select	NP_001360.1:p.Asn4427Ser