Canonical Allele Identifier: CA359201828

Gene: DNAH5

Linked Data

• dbSNP Id: rs1172460177
• gnomAD v2: 5-13769143-T-G
• gnomAD v4: 5-13769034-T-G
• MyVariant Identifiers: chr5:g.13769143T>G (hg19) ; chr5:g.13769034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769034T>G , CM000667.2:g.13769034T>G	GRCh38
NC_000005.9:g.13769143T>G , CM000667.1:g.13769143T>G	GRCh37
NC_000005.8:g.13822143T>G	NCBI36
NG_013081.1:g.180447A>C
NG_013081.2:g.180447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9823A>C MANE Select	ENSP00000265104.4:p.Lys3275Gln
ENST00000681290.1:c.9778A>C	ENSP00000505288.1:p.Lys3260Gln
ENST00000265104.4:c.9823A>C	ENSP00000265104.4:p.Lys3275Gln
ENST00000504001.3:n.535A>C
NM_001369.2:c.9823A>C	NP_001360.1:p.Lys3275Gln
XM_005248262.2:c.9778A>C	XP_005248319.1:p.Lys3260Gln
XM_005248262.3:c.9931A>C	XP_005248319.2:p.Lys3311Gln
XM_017009177.1:c.9931A>C	XP_016864666.1:p.Lys3311Gln
XM_017009178.1:c.8836A>C	XP_016864667.1:p.Lys2946Gln
XM_017009179.2:c.8836A>C	XP_016864668.1:p.Lys2946Gln
XM_017009180.1:c.9931A>C	XP_016864669.1:p.Lys3311Gln
XM_017009181.1:c.9931A>C	XP_016864670.1:p.Lys3311Gln
XM_017009182.1:c.9931A>C	XP_016864671.1:p.Lys3311Gln
XM_017009185.1:c.5020A>C	XP_016864674.1:p.Lys1674Gln
XM_017009186.1:c.4573A>C	XP_016864675.1:p.Lys1525Gln
XM_017009188.1:c.3910A>C	XP_016864677.1:p.Lys1304Gln
XM_024454388.1:c.8836A>C	XP_024310156.1:p.Lys2946Gln
XM_024454389.1:c.8425A>C	XP_024310157.1:p.Lys2809Gln
NM_001369.3:c.9823A>C MANE Select	NP_001360.1:p.Lys3275Gln