Canonical Allele Identifier: CA359204429

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770815-G-A
• MyVariant Identifiers: chr5:g.13770924G>A (hg19) ; chr5:g.13770815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770815G>A , CM000667.2:g.13770815G>A	GRCh38
NC_000005.9:g.13770924G>A , CM000667.1:g.13770924G>A	GRCh37
NC_000005.8:g.13823924G>A	NCBI36
NG_013081.1:g.178666C>T
NG_013081.2:g.178666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9539C>T MANE Select	ENSP00000265104.4:p.Ser3180Phe
ENST00000681290.1:c.9494C>T	ENSP00000505288.1:p.Ser3165Phe
ENST00000265104.4:c.9539C>T	ENSP00000265104.4:p.Ser3180Phe
ENST00000504001.3:n.251C>T
NM_001369.2:c.9539C>T	NP_001360.1:p.Ser3180Phe
XM_005248262.2:c.9494C>T	XP_005248319.1:p.Ser3165Phe
XM_005248262.3:c.9647C>T	XP_005248319.2:p.Ser3216Phe
XM_017009177.1:c.9647C>T	XP_016864666.1:p.Ser3216Phe
XM_017009178.1:c.8552C>T	XP_016864667.1:p.Ser2851Phe
XM_017009179.2:c.8552C>T	XP_016864668.1:p.Ser2851Phe
XM_017009180.1:c.9647C>T	XP_016864669.1:p.Ser3216Phe
XM_017009181.1:c.9647C>T	XP_016864670.1:p.Ser3216Phe
XM_017009182.1:c.9647C>T	XP_016864671.1:p.Ser3216Phe
XM_017009183.1:c.9647C>T	XP_016864672.1:p.Ser3216Phe
XM_017009185.1:c.4736C>T	XP_016864674.1:p.Ser1579Phe
XM_017009186.1:c.4289C>T	XP_016864675.1:p.Ser1430Phe
XM_017009188.1:c.3626C>T	XP_016864677.1:p.Ser1209Phe
XM_024454388.1:c.8552C>T	XP_024310156.1:p.Ser2851Phe
XM_024454389.1:c.8141C>T	XP_024310157.1:p.Ser2714Phe
NM_001369.3:c.9539C>T MANE Select	NP_001360.1:p.Ser3180Phe