Canonical Allele Identifier: CA359208485

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717623C>T (hg19) ; chr5:g.13717514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717514C>T , CM000667.2:g.13717514C>T	GRCh38
NC_000005.9:g.13717623C>T , CM000667.1:g.13717623C>T	GRCh37
NC_000005.8:g.13770623C>T	NCBI36
NG_013081.1:g.231967G>A
NG_013081.2:g.231967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12506G>A MANE Select	ENSP00000265104.4:p.Ser4169Asn
ENST00000681290.1:c.12461G>A	ENSP00000505288.1:p.Ser4154Asn
ENST00000265104.4:c.12506G>A	ENSP00000265104.4:p.Ser4169Asn
NM_001369.2:c.12506G>A	NP_001360.1:p.Ser4169Asn
XM_005248262.2:c.12461G>A	XP_005248319.1:p.Ser4154Asn
XM_005248262.3:c.12614G>A	XP_005248319.2:p.Ser4205Asn
XM_017009177.1:c.12614G>A	XP_016864666.1:p.Ser4205Asn
XM_017009178.1:c.11519G>A	XP_016864667.1:p.Ser3840Asn
XM_017009179.2:c.11519G>A	XP_016864668.1:p.Ser3840Asn
XM_017009180.1:c.12614G>A	XP_016864669.1:p.Ser4205Asn
XM_017009185.1:c.7703G>A	XP_016864674.1:p.Ser2568Asn
XM_017009186.1:c.7256G>A	XP_016864675.1:p.Ser2419Asn
XM_017009188.1:c.6593G>A	XP_016864677.1:p.Ser2198Asn
XM_024454388.1:c.11519G>A	XP_024310156.1:p.Ser3840Asn
XM_024454389.1:c.11108G>A	XP_024310157.1:p.Ser3703Asn
NM_001369.3:c.12506G>A MANE Select	NP_001360.1:p.Ser4169Asn