Canonical Allele Identifier: CA3201425

Gene: DNAH5

Linked Data

• dbSNP Id: rs770180322
• ExAC: 5:13708377 T / C
• gnomAD v2: 5-13708377-T-C
• gnomAD v4: 5-13708268-T-C
• MyVariant Identifiers: chr5:g.13708377T>C (hg19) ; chr5:g.13708268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708268T>C , CM000667.2:g.13708268T>C	GRCh38
NC_000005.9:g.13708377T>C , CM000667.1:g.13708377T>C	GRCh37
NC_000005.8:g.13761377T>C	NCBI36
NG_013081.1:g.241213A>G
NG_013081.2:g.241213A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.526A>G
ENST00000265104.5:c.13193A>G MANE Select	ENSP00000265104.4:p.Asp4398Gly
ENST00000681290.1:c.13148A>G	ENSP00000505288.1:p.Asp4383Gly
ENST00000265104.4:c.13193A>G	ENSP00000265104.4:p.Asp4398Gly
NM_001369.2:c.13193A>G	NP_001360.1:p.Asp4398Gly
XM_005248262.2:c.13148A>G	XP_005248319.1:p.Asp4383Gly
XM_005248262.3:c.13301A>G	XP_005248319.2:p.Asp4434Gly
XM_017009177.1:c.12881A>G	XP_016864666.1:p.Asp4294Gly
XM_017009178.1:c.12206A>G	XP_016864667.1:p.Asp4069Gly
XM_017009179.2:c.12206A>G	XP_016864668.1:p.Asp4069Gly
XM_017009185.1:c.8390A>G	XP_016864674.1:p.Asp2797Gly
XM_017009186.1:c.7943A>G	XP_016864675.1:p.Asp2648Gly
XM_017009188.1:c.7280A>G	XP_016864677.1:p.Asp2427Gly
XM_024454388.1:c.12206A>G	XP_024310156.1:p.Asp4069Gly
XM_024454389.1:c.11795A>G	XP_024310157.1:p.Asp3932Gly
NM_001369.3:c.13193A>G MANE Select	NP_001360.1:p.Asp4398Gly