Canonical Allele Identifier: CA359197382

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708362A>C (hg19) ; chr5:g.13708253A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708253A>C , CM000667.2:g.13708253A>C	GRCh38
NC_000005.9:g.13708362A>C , CM000667.1:g.13708362A>C	GRCh37
NC_000005.8:g.13761362A>C	NCBI36
NG_013081.1:g.241228T>G
NG_013081.2:g.241228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.541T>G
ENST00000265104.5:c.13208T>G MANE Select	ENSP00000265104.4:p.Val4403Gly
ENST00000681290.1:c.13163T>G	ENSP00000505288.1:p.Val4388Gly
ENST00000265104.4:c.13208T>G	ENSP00000265104.4:p.Val4403Gly
NM_001369.2:c.13208T>G	NP_001360.1:p.Val4403Gly
XM_005248262.2:c.13163T>G	XP_005248319.1:p.Val4388Gly
XM_005248262.3:c.13316T>G	XP_005248319.2:p.Val4439Gly
XM_017009177.1:c.12896T>G	XP_016864666.1:p.Val4299Gly
XM_017009178.1:c.12221T>G	XP_016864667.1:p.Val4074Gly
XM_017009179.2:c.12221T>G	XP_016864668.1:p.Val4074Gly
XM_017009185.1:c.8405T>G	XP_016864674.1:p.Val2802Gly
XM_017009186.1:c.7958T>G	XP_016864675.1:p.Val2653Gly
XM_017009188.1:c.7295T>G	XP_016864677.1:p.Val2432Gly
XM_024454388.1:c.12221T>G	XP_024310156.1:p.Val4074Gly
XM_024454389.1:c.11810T>G	XP_024310157.1:p.Val3937Gly
NM_001369.3:c.13208T>G MANE Select	NP_001360.1:p.Val4403Gly