Canonical Allele Identifier: CA359197893

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708397A>C (hg19) ; chr5:g.13708288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708288A>C , CM000667.2:g.13708288A>C	GRCh38
NC_000005.9:g.13708397A>C , CM000667.1:g.13708397A>C	GRCh37
NC_000005.8:g.13761397A>C	NCBI36
NG_013081.1:g.241193T>G
NG_013081.2:g.241193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.506T>G
ENST00000265104.5:c.13173T>G MANE Select	ENSP00000265104.4:p.Ile4391Met
ENST00000681290.1:c.13128T>G	ENSP00000505288.1:p.Ile4376Met
ENST00000265104.4:c.13173T>G	ENSP00000265104.4:p.Ile4391Met
NM_001369.2:c.13173T>G	NP_001360.1:p.Ile4391Met
XM_005248262.2:c.13128T>G	XP_005248319.1:p.Ile4376Met
XM_005248262.3:c.13281T>G	XP_005248319.2:p.Ile4427Met
XM_017009177.1:c.12861T>G	XP_016864666.1:p.Ile4287Met
XM_017009178.1:c.12186T>G	XP_016864667.1:p.Ile4062Met
XM_017009179.2:c.12186T>G	XP_016864668.1:p.Ile4062Met
XM_017009185.1:c.8370T>G	XP_016864674.1:p.Ile2790Met
XM_017009186.1:c.7923T>G	XP_016864675.1:p.Ile2641Met
XM_017009188.1:c.7260T>G	XP_016864677.1:p.Ile2420Met
XM_024454388.1:c.12186T>G	XP_024310156.1:p.Ile4062Met
XM_024454389.1:c.11775T>G	XP_024310157.1:p.Ile3925Met
NM_001369.3:c.13173T>G MANE Select	NP_001360.1:p.Ile4391Met