Canonical Allele Identifier: CA359196735

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708291T>C (hg19) ; chr5:g.13708182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708182T>C , CM000667.2:g.13708182T>C	GRCh38
NC_000005.9:g.13708291T>C , CM000667.1:g.13708291T>C	GRCh37
NC_000005.8:g.13761291T>C	NCBI36
NG_013081.1:g.241299A>G
NG_013081.2:g.241299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.612A>G
ENST00000265104.5:c.13279A>G MANE Select	ENSP00000265104.4:p.Asn4427Asp
ENST00000681290.1:c.13234A>G	ENSP00000505288.1:p.Asn4412Asp
ENST00000265104.4:c.13279A>G	ENSP00000265104.4:p.Asn4427Asp
NM_001369.2:c.13279A>G	NP_001360.1:p.Asn4427Asp
XM_005248262.2:c.13234A>G	XP_005248319.1:p.Asn4412Asp
XM_005248262.3:c.13387A>G	XP_005248319.2:p.Asn4463Asp
XM_017009177.1:c.12967A>G	XP_016864666.1:p.Asn4323Asp
XM_017009178.1:c.12292A>G	XP_016864667.1:p.Asn4098Asp
XM_017009179.2:c.12292A>G	XP_016864668.1:p.Asn4098Asp
XM_017009185.1:c.8476A>G	XP_016864674.1:p.Asn2826Asp
XM_017009186.1:c.8029A>G	XP_016864675.1:p.Asn2677Asp
XM_017009188.1:c.7366A>G	XP_016864677.1:p.Asn2456Asp
XM_024454388.1:c.12292A>G	XP_024310156.1:p.Asn4098Asp
XM_024454389.1:c.11881A>G	XP_024310157.1:p.Asn3961Asp
NM_001369.3:c.13279A>G MANE Select	NP_001360.1:p.Asn4427Asp