Canonical Allele Identifier: CA443254984
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13717619T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13717510T>C , CM000667.2:g.13717510T>C GRCh38
NC_000005.9:g.13717619T>C , CM000667.1:g.13717619T>C GRCh37
NC_000005.8:g.13770619T>C NCBI36
NG_013081.1:g.231971A>G
NG_013081.2:g.231971A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.12510A>G MANE Select ENSP00000265104.4:p.Gln4170=
ENST00000681290.1:c.12465A>G ENSP00000505288.1:p.Gln4155=
ENST00000265104.4:c.12510A>G ENSP00000265104.4:p.Gln4170=
NM_001369.2:c.12510A>G NP_001360.1:p.Gln4170=
XM_005248262.2:c.12465A>G XP_005248319.1:p.Gln4155=
XM_005248262.3:c.12618A>G XP_005248319.2:p.Gln4206=
XM_017009177.1:c.12618A>G XP_016864666.1:p.Gln4206=
XM_017009178.1:c.11523A>G XP_016864667.1:p.Gln3841=
XM_017009179.2:c.11523A>G XP_016864668.1:p.Gln3841=
XM_017009180.1:c.12618A>G XP_016864669.1:p.Gln4206=
XM_017009185.1:c.7707A>G XP_016864674.1:p.Gln2569=
XM_017009186.1:c.7260A>G XP_016864675.1:p.Gln2420=
XM_017009188.1:c.6597A>G XP_016864677.1:p.Gln2199=
XM_024454388.1:c.11523A>G XP_024310156.1:p.Gln3841=
XM_024454389.1:c.11112A>G XP_024310157.1:p.Gln3704=
NM_001369.3:c.12510A>G MANE Select NP_001360.1:p.Gln4170=