Canonical Allele Identifier: CA443248686

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 712722
• ClinVar RCV Id: RCV000884728
• dbSNP Id: rs1361071108
• gnomAD v2: 5-13752318-A-G
• gnomAD v3: 5-13752209-A-G
• gnomAD v4: 5-13752209-A-G
• MyVariant Identifiers: chr5:g.13752318A>G (hg19) ; chr5:g.13752209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752209A>G , CM000667.2:g.13752209A>G	GRCh38
NC_000005.9:g.13752318A>G , CM000667.1:g.13752318A>G	GRCh37
NC_000005.8:g.13805318A>G	NCBI36
NG_013081.1:g.197272T>C
NG_013081.2:g.197272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10953T>C MANE Select	ENSP00000265104.4:p.Asp3651=
ENST00000681290.1:c.10908T>C	ENSP00000505288.1:p.Asp3636=
ENST00000265104.4:c.10953T>C	ENSP00000265104.4:p.Asp3651=
NM_001369.2:c.10953T>C	NP_001360.1:p.Asp3651=
XM_005248262.2:c.10908T>C	XP_005248319.1:p.Asp3636=
XM_005248262.3:c.11061T>C	XP_005248319.2:p.Asp3687=
XM_017009177.1:c.11061T>C	XP_016864666.1:p.Asp3687=
XM_017009178.1:c.9966T>C	XP_016864667.1:p.Asp3322=
XM_017009179.2:c.9966T>C	XP_016864668.1:p.Asp3322=
XM_017009180.1:c.11061T>C	XP_016864669.1:p.Asp3687=
XM_017009181.1:c.11061T>C	XP_016864670.1:p.Asp3687=
XM_017009182.1:c.11061T>C	XP_016864671.1:p.Asp3687=
XM_017009185.1:c.6150T>C	XP_016864674.1:p.Asp2050=
XM_017009186.1:c.5703T>C	XP_016864675.1:p.Asp1901=
XM_017009188.1:c.5040T>C	XP_016864677.1:p.Asp1680=
XM_024454388.1:c.9966T>C	XP_024310156.1:p.Asp3322=
XM_024454389.1:c.9555T>C	XP_024310157.1:p.Asp3185=
NM_001369.3:c.10953T>C MANE Select	NP_001360.1:p.Asp3651=