Canonical Allele Identifier: CA3201236

Gene: DNAH5

Linked Data

• dbSNP Id: rs771108785
• ExAC: 5:13692164 C / T
• gnomAD v2: 5-13692164-C-T
• MyVariant Identifiers: chr5:g.13692164C>T (hg19) ; chr5:g.13692055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692055C>T , CM000667.2:g.13692055C>T	GRCh38
NC_000005.9:g.13692164C>T , CM000667.1:g.13692164C>T	GRCh37
NC_000005.8:g.13745164C>T	NCBI36
NG_013081.1:g.257426G>A
NG_013081.2:g.257426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1137G>A
ENST00000265104.5:c.13804G>A MANE Select	ENSP00000265104.4:p.Asp4602Asn
ENST00000681290.1:c.13759G>A	ENSP00000505288.1:p.Asp4587Asn
ENST00000265104.4:c.13804G>A	ENSP00000265104.4:p.Asp4602Asn
NM_001369.2:c.13804G>A	NP_001360.1:p.Asp4602Asn
XM_005248262.2:c.13759G>A	XP_005248319.1:p.Asp4587Asn
XM_005248262.3:c.13912G>A	XP_005248319.2:p.Asp4638Asn
XM_017009177.1:c.13492G>A	XP_016864666.1:p.Asp4498Asn
XM_017009178.1:c.12817G>A	XP_016864667.1:p.Asp4273Asn
XM_017009179.2:c.12817G>A	XP_016864668.1:p.Asp4273Asn
XM_017009185.1:c.9001G>A	XP_016864674.1:p.Asp3001Asn
XM_017009186.1:c.8554G>A	XP_016864675.1:p.Asp2852Asn
XM_017009188.1:c.7891G>A	XP_016864677.1:p.Asp2631Asn
XM_024454388.1:c.12817G>A	XP_024310156.1:p.Asp4273Asn
XM_024454389.1:c.12406G>A	XP_024310157.1:p.Asp4136Asn
NM_001369.3:c.13804G>A MANE Select	NP_001360.1:p.Asp4602Asn