Canonical Allele Identifier: CA359188719

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692211A>C (hg19) ; chr5:g.13692102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692102A>C , CM000667.2:g.13692102A>C	GRCh38
NC_000005.9:g.13692211A>C , CM000667.1:g.13692211A>C	GRCh37
NC_000005.8:g.13745211A>C	NCBI36
NG_013081.1:g.257379T>G
NG_013081.2:g.257379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1090T>G
ENST00000265104.5:c.13757T>G MANE Select	ENSP00000265104.4:p.Ile4586Ser
ENST00000681290.1:c.13712T>G	ENSP00000505288.1:p.Ile4571Ser
ENST00000265104.4:c.13757T>G	ENSP00000265104.4:p.Ile4586Ser
NM_001369.2:c.13757T>G	NP_001360.1:p.Ile4586Ser
XM_005248262.2:c.13712T>G	XP_005248319.1:p.Ile4571Ser
XM_005248262.3:c.13865T>G	XP_005248319.2:p.Ile4622Ser
XM_017009177.1:c.13445T>G	XP_016864666.1:p.Ile4482Ser
XM_017009178.1:c.12770T>G	XP_016864667.1:p.Ile4257Ser
XM_017009179.2:c.12770T>G	XP_016864668.1:p.Ile4257Ser
XM_017009185.1:c.8954T>G	XP_016864674.1:p.Ile2985Ser
XM_017009186.1:c.8507T>G	XP_016864675.1:p.Ile2836Ser
XM_017009188.1:c.7844T>G	XP_016864677.1:p.Ile2615Ser
XM_024454388.1:c.12770T>G	XP_024310156.1:p.Ile4257Ser
XM_024454389.1:c.12359T>G	XP_024310157.1:p.Ile4120Ser
NM_001369.3:c.13757T>G MANE Select	NP_001360.1:p.Ile4586Ser