Canonical Allele Identifier: CA359221281

Gene: DNAH5

Linked Data

• dbSNP Id: rs1580274495
• gnomAD v4: 5-13793599-T-G
• MyVariant Identifiers: chr5:g.13793708T>G (hg19) ; chr5:g.13793599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793599T>G , CM000667.2:g.13793599T>G	GRCh38
NC_000005.9:g.13793708T>G , CM000667.1:g.13793708T>G	GRCh37
NC_000005.8:g.13846708T>G	NCBI36
NG_013081.1:g.155882A>C
NG_013081.2:g.155882A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8140A>C MANE Select	ENSP00000265104.4:p.Asn2714His
ENST00000681290.1:c.8095A>C	ENSP00000505288.1:p.Asn2699His
ENST00000265104.4:c.8140A>C	ENSP00000265104.4:p.Asn2714His
NM_001369.2:c.8140A>C	NP_001360.1:p.Asn2714His
XM_005248262.2:c.8095A>C	XP_005248319.1:p.Asn2699His
XM_011513990.1:c.8140A>C	XP_011512292.1:p.Asn2714His
XR_925598.1:n.8347A>C
XM_005248262.3:c.8248A>C	XP_005248319.2:p.Asn2750His
XM_017009177.1:c.8248A>C	XP_016864666.1:p.Asn2750His
XM_017009178.1:c.7153A>C	XP_016864667.1:p.Asn2385His
XM_017009179.2:c.7153A>C	XP_016864668.1:p.Asn2385His
XM_017009180.1:c.8248A>C	XP_016864669.1:p.Asn2750His
XM_017009181.1:c.8248A>C	XP_016864670.1:p.Asn2750His
XM_017009182.1:c.8248A>C	XP_016864671.1:p.Asn2750His
XM_017009183.1:c.8248A>C	XP_016864672.1:p.Asn2750His
XM_017009184.1:c.8248A>C	XP_016864673.1:p.Asn2750His
XM_017009185.1:c.3337A>C	XP_016864674.1:p.Asn1113His
XM_017009186.1:c.2890A>C	XP_016864675.1:p.Asn964His
XM_017009188.1:c.2227A>C	XP_016864677.1:p.Asn743His
XM_024454388.1:c.7153A>C	XP_024310156.1:p.Asn2385His
XM_024454389.1:c.6742A>C	XP_024310157.1:p.Asn2248His
XR_001742034.1:n.8265A>C
XR_001742035.1:n.8265A>C
NM_001369.3:c.8140A>C MANE Select	NP_001360.1:p.Asn2714His