Canonical Allele Identifier: CA3202165

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 904103
• ClinVar RCV Id: RCV001151816 ; RCV002559464
• dbSNP Id: rs747041428
• ExAC: 5:13753575 G / A
• gnomAD v2: 5-13753575-G-A
• gnomAD v3: 5-13753466-G-A
• gnomAD v4: 5-13753466-G-A
• MyVariant Identifiers: chr5:g.13753575G>A (hg19) ; chr5:g.13753466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753466G>A , CM000667.2:g.13753466G>A	GRCh38
NC_000005.9:g.13753575G>A , CM000667.1:g.13753575G>A	GRCh37
NC_000005.8:g.13806575G>A	NCBI36
NG_013081.1:g.196015C>T
NG_013081.2:g.196015C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10639C>T MANE Select	ENSP00000265104.4:p.Arg3547Trp
ENST00000681290.1:c.10594C>T	ENSP00000505288.1:p.Arg3532Trp
ENST00000265104.4:c.10639C>T	ENSP00000265104.4:p.Arg3547Trp
NM_001369.2:c.10639C>T	NP_001360.1:p.Arg3547Trp
XM_005248262.2:c.10594C>T	XP_005248319.1:p.Arg3532Trp
XM_005248262.3:c.10747C>T	XP_005248319.2:p.Arg3583Trp
XM_017009177.1:c.10747C>T	XP_016864666.1:p.Arg3583Trp
XM_017009178.1:c.9652C>T	XP_016864667.1:p.Arg3218Trp
XM_017009179.2:c.9652C>T	XP_016864668.1:p.Arg3218Trp
XM_017009180.1:c.10747C>T	XP_016864669.1:p.Arg3583Trp
XM_017009181.1:c.10747C>T	XP_016864670.1:p.Arg3583Trp
XM_017009182.1:c.10747C>T	XP_016864671.1:p.Arg3583Trp
XM_017009185.1:c.5836C>T	XP_016864674.1:p.Arg1946Trp
XM_017009186.1:c.5389C>T	XP_016864675.1:p.Arg1797Trp
XM_017009188.1:c.4726C>T	XP_016864677.1:p.Arg1576Trp
XM_024454388.1:c.9652C>T	XP_024310156.1:p.Arg3218Trp
XM_024454389.1:c.9241C>T	XP_024310157.1:p.Arg3081Trp
NM_001369.3:c.10639C>T MANE Select	NP_001360.1:p.Arg3547Trp