Canonical Allele Identifier: CA113905440

Gene: DNAH5

Linked Data

• dbSNP Id: rs1018054486
• gnomAD v2: 5-13692115-G-A
• gnomAD v3: 5-13692006-G-A
• gnomAD v4: 5-13692006-G-A
• MyVariant Identifiers: chr5:g.13692115G>A (hg19) ; chr5:g.13692006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692006G>A , CM000667.2:g.13692006G>A	GRCh38
NC_000005.9:g.13692115G>A , CM000667.1:g.13692115G>A	GRCh37
NC_000005.8:g.13745115G>A	NCBI36
NG_013081.1:g.257475C>T
NG_013081.2:g.257475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1186C>T
ENST00000265104.5:c.13853C>T MANE Select	ENSP00000265104.4:p.Ala4618Val
ENST00000681290.1:c.13808C>T	ENSP00000505288.1:p.Ala4603Val
ENST00000265104.4:c.13853C>T	ENSP00000265104.4:p.Ala4618Val
NM_001369.2:c.13853C>T	NP_001360.1:p.Ala4618Val
XM_005248262.2:c.13808C>T	XP_005248319.1:p.Ala4603Val
XM_005248262.3:c.13961C>T	XP_005248319.2:p.Ala4654Val
XM_017009177.1:c.13541C>T	XP_016864666.1:p.Ala4514Val
XM_017009178.1:c.12866C>T	XP_016864667.1:p.Ala4289Val
XM_017009179.2:c.12866C>T	XP_016864668.1:p.Ala4289Val
XM_017009185.1:c.9050C>T	XP_016864674.1:p.Ala3017Val
XM_017009186.1:c.8603C>T	XP_016864675.1:p.Ala2868Val
XM_017009188.1:c.7940C>T	XP_016864677.1:p.Ala2647Val
XM_024454388.1:c.12866C>T	XP_024310156.1:p.Ala4289Val
XM_024454389.1:c.12455C>T	XP_024310157.1:p.Ala4152Val
NM_001369.3:c.13853C>T MANE Select	NP_001360.1:p.Ala4618Val