Canonical Allele Identifier: CA359202119

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769192C>G (hg19) ; chr5:g.13769083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769083C>G , CM000667.2:g.13769083C>G	GRCh38
NC_000005.9:g.13769192C>G , CM000667.1:g.13769192C>G	GRCh37
NC_000005.8:g.13822192C>G	NCBI36
NG_013081.1:g.180398G>C
NG_013081.2:g.180398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9774G>C MANE Select	ENSP00000265104.4:p.Glu3258Asp
ENST00000681290.1:c.9729G>C	ENSP00000505288.1:p.Glu3243Asp
ENST00000265104.4:c.9774G>C	ENSP00000265104.4:p.Glu3258Asp
ENST00000504001.3:n.486G>C
NM_001369.2:c.9774G>C	NP_001360.1:p.Glu3258Asp
XM_005248262.2:c.9729G>C	XP_005248319.1:p.Glu3243Asp
XM_005248262.3:c.9882G>C	XP_005248319.2:p.Glu3294Asp
XM_017009177.1:c.9882G>C	XP_016864666.1:p.Glu3294Asp
XM_017009178.1:c.8787G>C	XP_016864667.1:p.Glu2929Asp
XM_017009179.2:c.8787G>C	XP_016864668.1:p.Glu2929Asp
XM_017009180.1:c.9882G>C	XP_016864669.1:p.Glu3294Asp
XM_017009181.1:c.9882G>C	XP_016864670.1:p.Glu3294Asp
XM_017009182.1:c.9882G>C	XP_016864671.1:p.Glu3294Asp
XM_017009185.1:c.4971G>C	XP_016864674.1:p.Glu1657Asp
XM_017009186.1:c.4524G>C	XP_016864675.1:p.Glu1508Asp
XM_017009188.1:c.3861G>C	XP_016864677.1:p.Glu1287Asp
XM_024454388.1:c.8787G>C	XP_024310156.1:p.Glu2929Asp
XM_024454389.1:c.8376G>C	XP_024310157.1:p.Glu2792Asp
NM_001369.3:c.9774G>C MANE Select	NP_001360.1:p.Glu3258Asp