Canonical Allele Identifier: CA359189831

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752285A>T (hg19) ; chr5:g.13752176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752176A>T , CM000667.2:g.13752176A>T	GRCh38
NC_000005.9:g.13752285A>T , CM000667.1:g.13752285A>T	GRCh37
NC_000005.8:g.13805285A>T	NCBI36
NG_013081.1:g.197305T>A
NG_013081.2:g.197305T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10986T>A MANE Select	ENSP00000265104.4:p.Asn3662Lys
ENST00000681290.1:c.10941T>A	ENSP00000505288.1:p.Asn3647Lys
ENST00000265104.4:c.10986T>A	ENSP00000265104.4:p.Asn3662Lys
NM_001369.2:c.10986T>A	NP_001360.1:p.Asn3662Lys
XM_005248262.2:c.10941T>A	XP_005248319.1:p.Asn3647Lys
XM_005248262.3:c.11094T>A	XP_005248319.2:p.Asn3698Lys
XM_017009177.1:c.11094T>A	XP_016864666.1:p.Asn3698Lys
XM_017009178.1:c.9999T>A	XP_016864667.1:p.Asn3333Lys
XM_017009179.2:c.9999T>A	XP_016864668.1:p.Asn3333Lys
XM_017009180.1:c.11094T>A	XP_016864669.1:p.Asn3698Lys
XM_017009181.1:c.11094T>A	XP_016864670.1:p.Asn3698Lys
XM_017009182.1:c.11094T>A	XP_016864671.1:p.Asn3698Lys
XM_017009185.1:c.6183T>A	XP_016864674.1:p.Asn2061Lys
XM_017009186.1:c.5736T>A	XP_016864675.1:p.Asn1912Lys
XM_017009188.1:c.5073T>A	XP_016864677.1:p.Asn1691Lys
XM_024454388.1:c.9999T>A	XP_024310156.1:p.Asn3333Lys
XM_024454389.1:c.9588T>A	XP_024310157.1:p.Asn3196Lys
NM_001369.3:c.10986T>A MANE Select	NP_001360.1:p.Asn3662Lys