Canonical Allele Identifier: CA3201246

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1066064
• ClinVar RCV Id: RCV001376959 ; RCV002493914
• dbSNP Id: rs758112779
• ExAC: 5:13692194 G / A
• gnomAD v2: 5-13692194-G-A
• gnomAD v4: 5-13692085-G-A
• COSMIC: COSM267977
• MyVariant Identifiers: chr5:g.13692194G>A (hg19) ; chr5:g.13692085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692085G>A , CM000667.2:g.13692085G>A	GRCh38
NC_000005.9:g.13692194G>A , CM000667.1:g.13692194G>A	GRCh37
NC_000005.8:g.13745194G>A	NCBI36
NG_013081.1:g.257396C>T
NG_013081.2:g.257396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1107C>T
ENST00000265104.5:c.13774C>T MANE Select	ENSP00000265104.4:p.Arg4592Ter
ENST00000681290.1:c.13729C>T	ENSP00000505288.1:p.Arg4577Ter
ENST00000265104.4:c.13774C>T	ENSP00000265104.4:p.Arg4592Ter
NM_001369.2:c.13774C>T	NP_001360.1:p.Arg4592Ter
XM_005248262.2:c.13729C>T	XP_005248319.1:p.Arg4577Ter
XM_005248262.3:c.13882C>T	XP_005248319.2:p.Arg4628Ter
XM_017009177.1:c.13462C>T	XP_016864666.1:p.Arg4488Ter
XM_017009178.1:c.12787C>T	XP_016864667.1:p.Arg4263Ter
XM_017009179.2:c.12787C>T	XP_016864668.1:p.Arg4263Ter
XM_017009185.1:c.8971C>T	XP_016864674.1:p.Arg2991Ter
XM_017009186.1:c.8524C>T	XP_016864675.1:p.Arg2842Ter
XM_017009188.1:c.7861C>T	XP_016864677.1:p.Arg2621Ter
XM_024454388.1:c.12787C>T	XP_024310156.1:p.Arg4263Ter
XM_024454389.1:c.12376C>T	XP_024310157.1:p.Arg4126Ter
NM_001369.3:c.13774C>T MANE Select	NP_001360.1:p.Arg4592Ter