Canonical Allele Identifier: CA359198063

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708407G>C (hg19) ; chr5:g.13708298G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708298G>C , CM000667.2:g.13708298G>C	GRCh38
NC_000005.9:g.13708407G>C , CM000667.1:g.13708407G>C	GRCh37
NC_000005.8:g.13761407G>C	NCBI36
NG_013081.1:g.241183C>G
NG_013081.2:g.241183C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.496C>G
ENST00000265104.5:c.13163C>G MANE Select	ENSP00000265104.4:p.Pro4388Arg
ENST00000681290.1:c.13118C>G	ENSP00000505288.1:p.Pro4373Arg
ENST00000265104.4:c.13163C>G	ENSP00000265104.4:p.Pro4388Arg
NM_001369.2:c.13163C>G	NP_001360.1:p.Pro4388Arg
XM_005248262.2:c.13118C>G	XP_005248319.1:p.Pro4373Arg
XM_005248262.3:c.13271C>G	XP_005248319.2:p.Pro4424Arg
XM_017009177.1:c.12851C>G	XP_016864666.1:p.Pro4284Arg
XM_017009178.1:c.12176C>G	XP_016864667.1:p.Pro4059Arg
XM_017009179.2:c.12176C>G	XP_016864668.1:p.Pro4059Arg
XM_017009185.1:c.8360C>G	XP_016864674.1:p.Pro2787Arg
XM_017009186.1:c.7913C>G	XP_016864675.1:p.Pro2638Arg
XM_017009188.1:c.7250C>G	XP_016864677.1:p.Pro2417Arg
XM_024454388.1:c.12176C>G	XP_024310156.1:p.Pro4059Arg
XM_024454389.1:c.11765C>G	XP_024310157.1:p.Pro3922Arg
NM_001369.3:c.13163C>G MANE Select	NP_001360.1:p.Pro4388Arg