Canonical Allele Identifier: CA359189896

Gene: DNAH5

Linked Data

• dbSNP Id: rs1180748036
• gnomAD v2: 5-13752290-C-T
• gnomAD v4: 5-13752181-C-T
• MyVariant Identifiers: chr5:g.13752290C>T (hg19) ; chr5:g.13752181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752181C>T , CM000667.2:g.13752181C>T	GRCh38
NC_000005.9:g.13752290C>T , CM000667.1:g.13752290C>T	GRCh37
NC_000005.8:g.13805290C>T	NCBI36
NG_013081.1:g.197300G>A
NG_013081.2:g.197300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10981G>A MANE Select	ENSP00000265104.4:p.Asp3661Asn
ENST00000681290.1:c.10936G>A	ENSP00000505288.1:p.Asp3646Asn
ENST00000265104.4:c.10981G>A	ENSP00000265104.4:p.Asp3661Asn
NM_001369.2:c.10981G>A	NP_001360.1:p.Asp3661Asn
XM_005248262.2:c.10936G>A	XP_005248319.1:p.Asp3646Asn
XM_005248262.3:c.11089G>A	XP_005248319.2:p.Asp3697Asn
XM_017009177.1:c.11089G>A	XP_016864666.1:p.Asp3697Asn
XM_017009178.1:c.9994G>A	XP_016864667.1:p.Asp3332Asn
XM_017009179.2:c.9994G>A	XP_016864668.1:p.Asp3332Asn
XM_017009180.1:c.11089G>A	XP_016864669.1:p.Asp3697Asn
XM_017009181.1:c.11089G>A	XP_016864670.1:p.Asp3697Asn
XM_017009182.1:c.11089G>A	XP_016864671.1:p.Asp3697Asn
XM_017009185.1:c.6178G>A	XP_016864674.1:p.Asp2060Asn
XM_017009186.1:c.5731G>A	XP_016864675.1:p.Asp1911Asn
XM_017009188.1:c.5068G>A	XP_016864677.1:p.Asp1690Asn
XM_024454388.1:c.9994G>A	XP_024310156.1:p.Asp3332Asn
XM_024454389.1:c.9583G>A	XP_024310157.1:p.Asp3195Asn
NM_001369.3:c.10981G>A MANE Select	NP_001360.1:p.Asp3661Asn