Canonical Allele Identifier: CA3202166

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1036006
• ClinVar RCV Id: RCV001338950
• dbSNP Id: rs747041428
• ExAC: 5:13753575 G / C
• gnomAD v2: 5-13753575-G-C
• gnomAD v4: 5-13753466-G-C
• MyVariant Identifiers: chr5:g.13753575G>C (hg19) ; chr5:g.13753466G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10639C>G MANE Select	ENSP00000265104.4:p.Arg3547Gly
ENST00000681290.1:c.10594C>G	ENSP00000505288.1:p.Arg3532Gly
ENST00000265104.4:c.10639C>G	ENSP00000265104.4:p.Arg3547Gly
NM_001369.2:c.10639C>G	NP_001360.1:p.Arg3547Gly
XM_005248262.2:c.10594C>G	XP_005248319.1:p.Arg3532Gly
XM_005248262.3:c.10747C>G	XP_005248319.2:p.Arg3583Gly
XM_017009177.1:c.10747C>G	XP_016864666.1:p.Arg3583Gly
XM_017009178.1:c.9652C>G	XP_016864667.1:p.Arg3218Gly
XM_017009179.2:c.9652C>G	XP_016864668.1:p.Arg3218Gly
XM_017009180.1:c.10747C>G	XP_016864669.1:p.Arg3583Gly
XM_017009181.1:c.10747C>G	XP_016864670.1:p.Arg3583Gly
XM_017009182.1:c.10747C>G	XP_016864671.1:p.Arg3583Gly
XM_017009185.1:c.5836C>G	XP_016864674.1:p.Arg1946Gly
XM_017009186.1:c.5389C>G	XP_016864675.1:p.Arg1797Gly
XM_017009188.1:c.4726C>G	XP_016864677.1:p.Arg1576Gly
XM_024454388.1:c.9652C>G	XP_024310156.1:p.Arg3218Gly
XM_024454389.1:c.9241C>G	XP_024310157.1:p.Arg3081Gly
NM_001369.3:c.10639C>G MANE Select	NP_001360.1:p.Arg3547Gly