Canonical Allele Identifier: CA443535520
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13770893T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770784T>C , CM000667.2:g.13770784T>C GRCh38
NC_000005.9:g.13770893T>C , CM000667.1:g.13770893T>C GRCh37
NC_000005.8:g.13823893T>C NCBI36
NG_013081.1:g.178697A>G
NG_013081.2:g.178697A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9570A>G MANE Select ENSP00000265104.4:p.Gly3190=
ENST00000681290.1:c.9525A>G ENSP00000505288.1:p.Gly3175=
ENST00000265104.4:c.9570A>G ENSP00000265104.4:p.Gly3190=
ENST00000504001.3:n.282A>G
NM_001369.2:c.9570A>G NP_001360.1:p.Gly3190=
XM_005248262.2:c.9525A>G XP_005248319.1:p.Gly3175=
XM_005248262.3:c.9678A>G XP_005248319.2:p.Gly3226=
XM_017009177.1:c.9678A>G XP_016864666.1:p.Gly3226=
XM_017009178.1:c.8583A>G XP_016864667.1:p.Gly2861=
XM_017009179.2:c.8583A>G XP_016864668.1:p.Gly2861=
XM_017009180.1:c.9678A>G XP_016864669.1:p.Gly3226=
XM_017009181.1:c.9678A>G XP_016864670.1:p.Gly3226=
XM_017009182.1:c.9678A>G XP_016864671.1:p.Gly3226=
XM_017009183.1:c.9678A>G XP_016864672.1:p.Gly3226=
XM_017009185.1:c.4767A>G XP_016864674.1:p.Gly1589=
XM_017009186.1:c.4320A>G XP_016864675.1:p.Gly1440=
XM_017009188.1:c.3657A>G XP_016864677.1:p.Gly1219=
XM_024454388.1:c.8583A>G XP_024310156.1:p.Gly2861=
XM_024454389.1:c.8172A>G XP_024310157.1:p.Gly2724=
NM_001369.3:c.9570A>G MANE Select NP_001360.1:p.Gly3190=