Canonical Allele Identifier: CA359201959

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1075777
• ClinVar RCV Id: RCV001389475
• dbSNP Id: rs923842695
• gnomAD v4: 5-13769058-G-A
• MyVariant Identifiers: chr5:g.13769167G>A (hg19) ; chr5:g.13769058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769058G>A , CM000667.2:g.13769058G>A	GRCh38
NC_000005.9:g.13769167G>A , CM000667.1:g.13769167G>A	GRCh37
NC_000005.8:g.13822167G>A	NCBI36
NG_013081.1:g.180423C>T
NG_013081.2:g.180423C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9799C>T MANE Select	ENSP00000265104.4:p.Gln3267Ter
ENST00000681290.1:c.9754C>T	ENSP00000505288.1:p.Gln3252Ter
ENST00000265104.4:c.9799C>T	ENSP00000265104.4:p.Gln3267Ter
ENST00000504001.3:n.511C>T
NM_001369.2:c.9799C>T	NP_001360.1:p.Gln3267Ter
XM_005248262.2:c.9754C>T	XP_005248319.1:p.Gln3252Ter
XM_005248262.3:c.9907C>T	XP_005248319.2:p.Gln3303Ter
XM_017009177.1:c.9907C>T	XP_016864666.1:p.Gln3303Ter
XM_017009178.1:c.8812C>T	XP_016864667.1:p.Gln2938Ter
XM_017009179.2:c.8812C>T	XP_016864668.1:p.Gln2938Ter
XM_017009180.1:c.9907C>T	XP_016864669.1:p.Gln3303Ter
XM_017009181.1:c.9907C>T	XP_016864670.1:p.Gln3303Ter
XM_017009182.1:c.9907C>T	XP_016864671.1:p.Gln3303Ter
XM_017009185.1:c.4996C>T	XP_016864674.1:p.Gln1666Ter
XM_017009186.1:c.4549C>T	XP_016864675.1:p.Gln1517Ter
XM_017009188.1:c.3886C>T	XP_016864677.1:p.Gln1296Ter
XM_024454388.1:c.8812C>T	XP_024310156.1:p.Gln2938Ter
XM_024454389.1:c.8401C>T	XP_024310157.1:p.Gln2801Ter
NM_001369.3:c.9799C>T MANE Select	NP_001360.1:p.Gln3267Ter