Canonical Allele Identifier: CA3202585

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1152183
• ClinVar RCV Id: RCV001493381
• dbSNP Id: rs771017031
• ExAC: 5:13776648 C / G
• gnomAD v2: 5-13776648-C-G
• gnomAD v3: 5-13776539-C-G
• gnomAD v4: 5-13776539-C-G
• MyVariant Identifiers: chr5:g.13776648C>G (hg19) ; chr5:g.13776539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776539C>G , CM000667.2:g.13776539C>G	GRCh38
NC_000005.9:g.13776648C>G , CM000667.1:g.13776648C>G	GRCh37
NC_000005.8:g.13829648C>G	NCBI36
NG_013081.1:g.172942G>C
NG_013081.2:g.172942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9273G>C MANE Select	ENSP00000265104.4:p.Val3091=
ENST00000681290.1:c.9228G>C	ENSP00000505288.1:p.Val3076=
ENST00000265104.4:c.9273G>C	ENSP00000265104.4:p.Val3091=
NM_001369.2:c.9273G>C	NP_001360.1:p.Val3091=
XM_005248262.2:c.9228G>C	XP_005248319.1:p.Val3076=
XM_005248262.3:c.9381G>C	XP_005248319.2:p.Val3127=
XM_017009177.1:c.9381G>C	XP_016864666.1:p.Val3127=
XM_017009178.1:c.8286G>C	XP_016864667.1:p.Val2762=
XM_017009179.2:c.8286G>C	XP_016864668.1:p.Val2762=
XM_017009180.1:c.9381G>C	XP_016864669.1:p.Val3127=
XM_017009181.1:c.9381G>C	XP_016864670.1:p.Val3127=
XM_017009182.1:c.9381G>C	XP_016864671.1:p.Val3127=
XM_017009183.1:c.9381G>C	XP_016864672.1:p.Val3127=
XM_017009185.1:c.4470G>C	XP_016864674.1:p.Val1490=
XM_017009186.1:c.4023G>C	XP_016864675.1:p.Val1341=
XM_017009188.1:c.3360G>C	XP_016864677.1:p.Val1120=
XM_024454388.1:c.8286G>C	XP_024310156.1:p.Val2762=
XM_024454389.1:c.7875G>C	XP_024310157.1:p.Val2625=
NM_001369.3:c.9273G>C MANE Select	NP_001360.1:p.Val3091=