Canonical Allele Identifier: CA359197632

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708379T>C (hg19) ; chr5:g.13708270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708270T>C , CM000667.2:g.13708270T>C	GRCh38
NC_000005.9:g.13708379T>C , CM000667.1:g.13708379T>C	GRCh37
NC_000005.8:g.13761379T>C	NCBI36
NG_013081.1:g.241211A>G
NG_013081.2:g.241211A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.524A>G
ENST00000265104.5:c.13191A>G MANE Select	ENSP00000265104.4:p.Ile4397Met
ENST00000681290.1:c.13146A>G	ENSP00000505288.1:p.Ile4382Met
ENST00000265104.4:c.13191A>G	ENSP00000265104.4:p.Ile4397Met
NM_001369.2:c.13191A>G	NP_001360.1:p.Ile4397Met
XM_005248262.2:c.13146A>G	XP_005248319.1:p.Ile4382Met
XM_005248262.3:c.13299A>G	XP_005248319.2:p.Ile4433Met
XM_017009177.1:c.12879A>G	XP_016864666.1:p.Ile4293Met
XM_017009178.1:c.12204A>G	XP_016864667.1:p.Ile4068Met
XM_017009179.2:c.12204A>G	XP_016864668.1:p.Ile4068Met
XM_017009185.1:c.8388A>G	XP_016864674.1:p.Ile2796Met
XM_017009186.1:c.7941A>G	XP_016864675.1:p.Ile2647Met
XM_017009188.1:c.7278A>G	XP_016864677.1:p.Ile2426Met
XM_024454388.1:c.12204A>G	XP_024310156.1:p.Ile4068Met
XM_024454389.1:c.11793A>G	XP_024310157.1:p.Ile3931Met
NM_001369.3:c.13191A>G MANE Select	NP_001360.1:p.Ile4397Met