Canonical Allele Identifier: CA113918988

Gene: DNAH5

Linked Data

• dbSNP Id: rs1018242987
• gnomAD v2: 5-13753505-G-A
• gnomAD v4: 5-13753396-G-A
• MyVariant Identifiers: chr5:g.13753505G>A (hg19) ; chr5:g.13753396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753396G>A , CM000667.2:g.13753396G>A	GRCh38
NC_000005.9:g.13753505G>A , CM000667.1:g.13753505G>A	GRCh37
NC_000005.8:g.13806505G>A	NCBI36
NG_013081.1:g.196085C>T
NG_013081.2:g.196085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10709C>T MANE Select	ENSP00000265104.4:p.Ala3570Val
ENST00000681290.1:c.10664C>T	ENSP00000505288.1:p.Ala3555Val
ENST00000265104.4:c.10709C>T	ENSP00000265104.4:p.Ala3570Val
NM_001369.2:c.10709C>T	NP_001360.1:p.Ala3570Val
XM_005248262.2:c.10664C>T	XP_005248319.1:p.Ala3555Val
XM_005248262.3:c.10817C>T	XP_005248319.2:p.Ala3606Val
XM_017009177.1:c.10817C>T	XP_016864666.1:p.Ala3606Val
XM_017009178.1:c.9722C>T	XP_016864667.1:p.Ala3241Val
XM_017009179.2:c.9722C>T	XP_016864668.1:p.Ala3241Val
XM_017009180.1:c.10817C>T	XP_016864669.1:p.Ala3606Val
XM_017009181.1:c.10817C>T	XP_016864670.1:p.Ala3606Val
XM_017009182.1:c.10817C>T	XP_016864671.1:p.Ala3606Val
XM_017009185.1:c.5906C>T	XP_016864674.1:p.Ala1969Val
XM_017009186.1:c.5459C>T	XP_016864675.1:p.Ala1820Val
XM_017009188.1:c.4796C>T	XP_016864677.1:p.Ala1599Val
XM_024454388.1:c.9722C>T	XP_024310156.1:p.Ala3241Val
XM_024454389.1:c.9311C>T	XP_024310157.1:p.Ala3104Val
NM_001369.3:c.10709C>T MANE Select	NP_001360.1:p.Ala3570Val