Canonical Allele Identifier: CA3202793

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 521166
• ClinVar RCV Id: RCV000629297 ; RCV000765815
• dbSNP Id: rs763198301
• ExAC: 5:13788960 T / G
• gnomAD v2: 5-13788960-T-G
• gnomAD v3: 5-13788851-T-G
• gnomAD v4: 5-13788851-T-G
• MyVariant Identifiers: chr5:g.13788960T>G (hg19) ; chr5:g.13788851T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13788851T>G , CM000667.2:g.13788851T>G	GRCh38
NC_000005.9:g.13788960T>G , CM000667.1:g.13788960T>G	GRCh37
NC_000005.8:g.13841960T>G	NCBI36
NG_013081.1:g.160630A>C
NG_013081.2:g.160630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8512A>C MANE Select	ENSP00000265104.4:p.Ser2838Arg
ENST00000681290.1:c.8467A>C	ENSP00000505288.1:p.Ser2823Arg
ENST00000265104.4:c.8512A>C	ENSP00000265104.4:p.Ser2838Arg
NM_001369.2:c.8512A>C	NP_001360.1:p.Ser2838Arg
XM_005248262.2:c.8467A>C	XP_005248319.1:p.Ser2823Arg
XM_011513990.1:c.8512A>C	XP_011512292.1:p.Ser2838Arg
XR_925598.1:n.8719A>C
XM_005248262.3:c.8620A>C	XP_005248319.2:p.Ser2874Arg
XM_017009177.1:c.8620A>C	XP_016864666.1:p.Ser2874Arg
XM_017009178.1:c.7525A>C	XP_016864667.1:p.Ser2509Arg
XM_017009179.2:c.7525A>C	XP_016864668.1:p.Ser2509Arg
XM_017009180.1:c.8620A>C	XP_016864669.1:p.Ser2874Arg
XM_017009181.1:c.8620A>C	XP_016864670.1:p.Ser2874Arg
XM_017009182.1:c.8620A>C	XP_016864671.1:p.Ser2874Arg
XM_017009183.1:c.8620A>C	XP_016864672.1:p.Ser2874Arg
XM_017009184.1:c.8620A>C	XP_016864673.1:p.Ser2874Arg
XM_017009185.1:c.3709A>C	XP_016864674.1:p.Ser1237Arg
XM_017009186.1:c.3262A>C	XP_016864675.1:p.Ser1088Arg
XM_017009188.1:c.2599A>C	XP_016864677.1:p.Ser867Arg
XM_024454388.1:c.7525A>C	XP_024310156.1:p.Ser2509Arg
XM_024454389.1:c.7114A>C	XP_024310157.1:p.Ser2372Arg
XR_001742034.1:n.8637A>C
XR_001742035.1:n.8637A>C
NM_001369.3:c.8512A>C MANE Select	NP_001360.1:p.Ser2838Arg