Canonical Allele Identifier: CA359196587

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708272T>C (hg19) ; chr5:g.13708163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708163T>C , CM000667.2:g.13708163T>C	GRCh38
NC_000005.9:g.13708272T>C , CM000667.1:g.13708272T>C	GRCh37
NC_000005.8:g.13761272T>C	NCBI36
NG_013081.1:g.241318A>G
NG_013081.2:g.241318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.631A>G
ENST00000265104.5:c.13298A>G MANE Select	ENSP00000265104.4:p.Asp4433Gly
ENST00000681290.1:c.13253A>G	ENSP00000505288.1:p.Asp4418Gly
ENST00000265104.4:c.13298A>G	ENSP00000265104.4:p.Asp4433Gly
NM_001369.2:c.13298A>G	NP_001360.1:p.Asp4433Gly
XM_005248262.2:c.13253A>G	XP_005248319.1:p.Asp4418Gly
XM_005248262.3:c.13406A>G	XP_005248319.2:p.Asp4469Gly
XM_017009177.1:c.12986A>G	XP_016864666.1:p.Asp4329Gly
XM_017009178.1:c.12311A>G	XP_016864667.1:p.Asp4104Gly
XM_017009179.2:c.12311A>G	XP_016864668.1:p.Asp4104Gly
XM_017009185.1:c.8495A>G	XP_016864674.1:p.Asp2832Gly
XM_017009186.1:c.8048A>G	XP_016864675.1:p.Asp2683Gly
XM_017009188.1:c.7385A>G	XP_016864677.1:p.Asp2462Gly
XM_024454388.1:c.12311A>G	XP_024310156.1:p.Asp4104Gly
XM_024454389.1:c.11900A>G	XP_024310157.1:p.Asp3967Gly
NM_001369.3:c.13298A>G MANE Select	NP_001360.1:p.Asp4433Gly