Canonical Allele Identifier: CA359208480

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717514-C-A
• MyVariant Identifiers: chr5:g.13717623C>A (hg19) ; chr5:g.13717514C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12506G>T MANE Select	ENSP00000265104.4:p.Ser4169Ile
ENST00000681290.1:c.12461G>T	ENSP00000505288.1:p.Ser4154Ile
ENST00000265104.4:c.12506G>T	ENSP00000265104.4:p.Ser4169Ile
NM_001369.2:c.12506G>T	NP_001360.1:p.Ser4169Ile
XM_005248262.2:c.12461G>T	XP_005248319.1:p.Ser4154Ile
XM_005248262.3:c.12614G>T	XP_005248319.2:p.Ser4205Ile
XM_017009177.1:c.12614G>T	XP_016864666.1:p.Ser4205Ile
XM_017009178.1:c.11519G>T	XP_016864667.1:p.Ser3840Ile
XM_017009179.2:c.11519G>T	XP_016864668.1:p.Ser3840Ile
XM_017009180.1:c.12614G>T	XP_016864669.1:p.Ser4205Ile
XM_017009185.1:c.7703G>T	XP_016864674.1:p.Ser2568Ile
XM_017009186.1:c.7256G>T	XP_016864675.1:p.Ser2419Ile
XM_017009188.1:c.6593G>T	XP_016864677.1:p.Ser2198Ile
XM_024454388.1:c.11519G>T	XP_024310156.1:p.Ser3840Ile
XM_024454389.1:c.11108G>T	XP_024310157.1:p.Ser3703Ile
NM_001369.3:c.12506G>T MANE Select	NP_001360.1:p.Ser4169Ile