Canonical Allele Identifier: CA443251300

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1561051
• ClinVar RCV Id: RCV002211543
• dbSNP Id: rs1406880003
• gnomAD v2: 5-13708355-G-A
• gnomAD v3: 5-13708246-G-A
• gnomAD v4: 5-13708246-G-A
• MyVariant Identifiers: chr5:g.13708355G>A (hg19) ; chr5:g.13708246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708246G>A , CM000667.2:g.13708246G>A	GRCh38
NC_000005.9:g.13708355G>A , CM000667.1:g.13708355G>A	GRCh37
NC_000005.8:g.13761355G>A	NCBI36
NG_013081.1:g.241235C>T
NG_013081.2:g.241235C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.548C>T
ENST00000265104.5:c.13215C>T MANE Select	ENSP00000265104.4:p.Ser4405=
ENST00000681290.1:c.13170C>T	ENSP00000505288.1:p.Ser4390=
ENST00000265104.4:c.13215C>T	ENSP00000265104.4:p.Ser4405=
NM_001369.2:c.13215C>T	NP_001360.1:p.Ser4405=
XM_005248262.2:c.13170C>T	XP_005248319.1:p.Ser4390=
XM_005248262.3:c.13323C>T	XP_005248319.2:p.Ser4441=
XM_017009177.1:c.12903C>T	XP_016864666.1:p.Ser4301=
XM_017009178.1:c.12228C>T	XP_016864667.1:p.Ser4076=
XM_017009179.2:c.12228C>T	XP_016864668.1:p.Ser4076=
XM_017009185.1:c.8412C>T	XP_016864674.1:p.Ser2804=
XM_017009186.1:c.7965C>T	XP_016864675.1:p.Ser2655=
XM_017009188.1:c.7302C>T	XP_016864677.1:p.Ser2434=
XM_024454388.1:c.12228C>T	XP_024310156.1:p.Ser4076=
XM_024454389.1:c.11817C>T	XP_024310157.1:p.Ser3939=
NM_001369.3:c.13215C>T MANE Select	NP_001360.1:p.Ser4405=