Canonical Allele Identifier: CA359204127

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770868G>C (hg19) ; chr5:g.13770759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770759G>C , CM000667.2:g.13770759G>C	GRCh38
NC_000005.9:g.13770868G>C , CM000667.1:g.13770868G>C	GRCh37
NC_000005.8:g.13823868G>C	NCBI36
NG_013081.1:g.178722C>G
NG_013081.2:g.178722C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9595C>G MANE Select	ENSP00000265104.4:p.Leu3199Val
ENST00000681290.1:c.9550C>G	ENSP00000505288.1:p.Leu3184Val
ENST00000265104.4:c.9595C>G	ENSP00000265104.4:p.Leu3199Val
ENST00000504001.3:n.307C>G
NM_001369.2:c.9595C>G	NP_001360.1:p.Leu3199Val
XM_005248262.2:c.9550C>G	XP_005248319.1:p.Leu3184Val
XM_005248262.3:c.9703C>G	XP_005248319.2:p.Leu3235Val
XM_017009177.1:c.9703C>G	XP_016864666.1:p.Leu3235Val
XM_017009178.1:c.8608C>G	XP_016864667.1:p.Leu2870Val
XM_017009179.2:c.8608C>G	XP_016864668.1:p.Leu2870Val
XM_017009180.1:c.9703C>G	XP_016864669.1:p.Leu3235Val
XM_017009181.1:c.9703C>G	XP_016864670.1:p.Leu3235Val
XM_017009182.1:c.9703C>G	XP_016864671.1:p.Leu3235Val
XM_017009183.1:c.9703C>G	XP_016864672.1:p.Leu3235Val
XM_017009185.1:c.4792C>G	XP_016864674.1:p.Leu1598Val
XM_017009186.1:c.4345C>G	XP_016864675.1:p.Leu1449Val
XM_017009188.1:c.3682C>G	XP_016864677.1:p.Leu1228Val
XM_024454388.1:c.8608C>G	XP_024310156.1:p.Leu2870Val
XM_024454389.1:c.8197C>G	XP_024310157.1:p.Leu2733Val
NM_001369.3:c.9595C>G MANE Select	NP_001360.1:p.Leu3199Val