Canonical Allele Identifier: CA359207413

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717528A>C (hg19) ; chr5:g.13717419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717419A>C , CM000667.2:g.13717419A>C	GRCh38
NC_000005.9:g.13717528A>C , CM000667.1:g.13717528A>C	GRCh37
NC_000005.8:g.13770528A>C	NCBI36
NG_013081.1:g.232062T>G
NG_013081.2:g.232062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12601T>G MANE Select	ENSP00000265104.4:p.Phe4201Val
ENST00000681290.1:c.12556T>G	ENSP00000505288.1:p.Phe4186Val
ENST00000265104.4:c.12601T>G	ENSP00000265104.4:p.Phe4201Val
NM_001369.2:c.12601T>G	NP_001360.1:p.Phe4201Val
XM_005248262.2:c.12556T>G	XP_005248319.1:p.Phe4186Val
XM_005248262.3:c.12709T>G	XP_005248319.2:p.Phe4237Val
XM_017009177.1:c.12709T>G	XP_016864666.1:p.Phe4237Val
XM_017009178.1:c.11614T>G	XP_016864667.1:p.Phe3872Val
XM_017009179.2:c.11614T>G	XP_016864668.1:p.Phe3872Val
XM_017009180.1:c.12709T>G	XP_016864669.1:p.Phe4237Val
XM_017009185.1:c.7798T>G	XP_016864674.1:p.Phe2600Val
XM_017009186.1:c.7351T>G	XP_016864675.1:p.Phe2451Val
XM_017009188.1:c.6688T>G	XP_016864677.1:p.Phe2230Val
XM_024454388.1:c.11614T>G	XP_024310156.1:p.Phe3872Val
XM_024454389.1:c.11203T>G	XP_024310157.1:p.Phe3735Val
NM_001369.3:c.12601T>G MANE Select	NP_001360.1:p.Phe4201Val