Canonical Allele Identifier: CA359196953

Gene: DNAH5

Linked Data

• COSMIC: COSM1241086
• MyVariant Identifiers: chr5:g.13708314T>C (hg19) ; chr5:g.13708205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708205T>C , CM000667.2:g.13708205T>C	GRCh38
NC_000005.9:g.13708314T>C , CM000667.1:g.13708314T>C	GRCh37
NC_000005.8:g.13761314T>C	NCBI36
NG_013081.1:g.241276A>G
NG_013081.2:g.241276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.589A>G
ENST00000265104.5:c.13256A>G MANE Select	ENSP00000265104.4:p.Asp4419Gly
ENST00000681290.1:c.13211A>G	ENSP00000505288.1:p.Asp4404Gly
ENST00000265104.4:c.13256A>G	ENSP00000265104.4:p.Asp4419Gly
NM_001369.2:c.13256A>G	NP_001360.1:p.Asp4419Gly
XM_005248262.2:c.13211A>G	XP_005248319.1:p.Asp4404Gly
XM_005248262.3:c.13364A>G	XP_005248319.2:p.Asp4455Gly
XM_017009177.1:c.12944A>G	XP_016864666.1:p.Asp4315Gly
XM_017009178.1:c.12269A>G	XP_016864667.1:p.Asp4090Gly
XM_017009179.2:c.12269A>G	XP_016864668.1:p.Asp4090Gly
XM_017009185.1:c.8453A>G	XP_016864674.1:p.Asp2818Gly
XM_017009186.1:c.8006A>G	XP_016864675.1:p.Asp2669Gly
XM_017009188.1:c.7343A>G	XP_016864677.1:p.Asp2448Gly
XM_024454388.1:c.12269A>G	XP_024310156.1:p.Asp4090Gly
XM_024454389.1:c.11858A>G	XP_024310157.1:p.Asp3953Gly
NM_001369.3:c.13256A>G MANE Select	NP_001360.1:p.Asp4419Gly