Canonical Allele Identifier: CA359190491

Gene: DNAH5

Linked Data

• dbSNP Id: rs1478005010
• gnomAD v2: 5-13752379-T-A
• COSMIC: COSM4604042
• MyVariant Identifiers: chr5:g.13752379T>A (hg19) ; chr5:g.13752270T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752270T>A , CM000667.2:g.13752270T>A	GRCh38
NC_000005.9:g.13752379T>A , CM000667.1:g.13752379T>A	GRCh37
NC_000005.8:g.13805379T>A	NCBI36
NG_013081.1:g.197211A>T
NG_013081.2:g.197211A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10892A>T MANE Select	ENSP00000265104.4:p.Lys3631Met
ENST00000681290.1:c.10847A>T	ENSP00000505288.1:p.Lys3616Met
ENST00000265104.4:c.10892A>T	ENSP00000265104.4:p.Lys3631Met
NM_001369.2:c.10892A>T	NP_001360.1:p.Lys3631Met
XM_005248262.2:c.10847A>T	XP_005248319.1:p.Lys3616Met
XM_005248262.3:c.11000A>T	XP_005248319.2:p.Lys3667Met
XM_017009177.1:c.11000A>T	XP_016864666.1:p.Lys3667Met
XM_017009178.1:c.9905A>T	XP_016864667.1:p.Lys3302Met
XM_017009179.2:c.9905A>T	XP_016864668.1:p.Lys3302Met
XM_017009180.1:c.11000A>T	XP_016864669.1:p.Lys3667Met
XM_017009181.1:c.11000A>T	XP_016864670.1:p.Lys3667Met
XM_017009182.1:c.11000A>T	XP_016864671.1:p.Lys3667Met
XM_017009185.1:c.6089A>T	XP_016864674.1:p.Lys2030Met
XM_017009186.1:c.5642A>T	XP_016864675.1:p.Lys1881Met
XM_017009188.1:c.4979A>T	XP_016864677.1:p.Lys1660Met
XM_024454388.1:c.9905A>T	XP_024310156.1:p.Lys3302Met
XM_024454389.1:c.9494A>T	XP_024310157.1:p.Lys3165Met
NM_001369.3:c.10892A>T MANE Select	NP_001360.1:p.Lys3631Met