Canonical Allele Identifier: CA359188635
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692061C>G , CM000667.2:g.13692061C>G GRCh38
NC_000005.9:g.13692170C>G , CM000667.1:g.13692170C>G GRCh37
NC_000005.8:g.13745170C>G NCBI36
NG_013081.1:g.257420G>C
NG_013081.2:g.257420G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1131G>C
ENST00000265104.5:c.13798G>C MANE Select ENSP00000265104.4:p.Ala4600Pro
ENST00000681290.1:c.13753G>C ENSP00000505288.1:p.Ala4585Pro
ENST00000265104.4:c.13798G>C ENSP00000265104.4:p.Ala4600Pro
NM_001369.2:c.13798G>C NP_001360.1:p.Ala4600Pro
XM_005248262.2:c.13753G>C XP_005248319.1:p.Ala4585Pro
XM_005248262.3:c.13906G>C XP_005248319.2:p.Ala4636Pro
XM_017009177.1:c.13486G>C XP_016864666.1:p.Ala4496Pro
XM_017009178.1:c.12811G>C XP_016864667.1:p.Ala4271Pro
XM_017009179.2:c.12811G>C XP_016864668.1:p.Ala4271Pro
XM_017009185.1:c.8995G>C XP_016864674.1:p.Ala2999Pro
XM_017009186.1:c.8548G>C XP_016864675.1:p.Ala2850Pro
XM_017009188.1:c.7885G>C XP_016864677.1:p.Ala2629Pro
XM_024454388.1:c.12811G>C XP_024310156.1:p.Ala4271Pro
XM_024454389.1:c.12400G>C XP_024310157.1:p.Ala4134Pro
NM_001369.3:c.13798G>C MANE Select NP_001360.1:p.Ala4600Pro