Canonical Allele Identifier: CA359207619

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 525310
• ClinVar RCV Id: RCV000629363
• dbSNP Id: rs886059965
• MyVariant Identifiers: chr5:g.13717543G>A (hg19) ; chr5:g.13717434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717434G>A , CM000667.2:g.13717434G>A	GRCh38
NC_000005.9:g.13717543G>A , CM000667.1:g.13717543G>A	GRCh37
NC_000005.8:g.13770543G>A	NCBI36
NG_013081.1:g.232047C>T
NG_013081.2:g.232047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12586C>T MANE Select	ENSP00000265104.4:p.Gln4196Ter
ENST00000681290.1:c.12541C>T	ENSP00000505288.1:p.Gln4181Ter
ENST00000265104.4:c.12586C>T	ENSP00000265104.4:p.Gln4196Ter
NM_001369.2:c.12586C>T	NP_001360.1:p.Gln4196Ter
XM_005248262.2:c.12541C>T	XP_005248319.1:p.Gln4181Ter
XM_005248262.3:c.12694C>T	XP_005248319.2:p.Gln4232Ter
XM_017009177.1:c.12694C>T	XP_016864666.1:p.Gln4232Ter
XM_017009178.1:c.11599C>T	XP_016864667.1:p.Gln3867Ter
XM_017009179.2:c.11599C>T	XP_016864668.1:p.Gln3867Ter
XM_017009180.1:c.12694C>T	XP_016864669.1:p.Gln4232Ter
XM_017009185.1:c.7783C>T	XP_016864674.1:p.Gln2595Ter
XM_017009186.1:c.7336C>T	XP_016864675.1:p.Gln2446Ter
XM_017009188.1:c.6673C>T	XP_016864677.1:p.Gln2225Ter
XM_024454388.1:c.11599C>T	XP_024310156.1:p.Gln3867Ter
XM_024454389.1:c.11188C>T	XP_024310157.1:p.Gln3730Ter
NM_001369.3:c.12586C>T MANE Select	NP_001360.1:p.Gln4196Ter