Canonical Allele Identifier: CA359188550

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692130A>G (hg19) ; chr5:g.13692021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692021A>G , CM000667.2:g.13692021A>G	GRCh38
NC_000005.9:g.13692130A>G , CM000667.1:g.13692130A>G	GRCh37
NC_000005.8:g.13745130A>G	NCBI36
NG_013081.1:g.257460T>C
NG_013081.2:g.257460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1171T>C
ENST00000265104.5:c.13838T>C MANE Select	ENSP00000265104.4:p.Val4613Ala
ENST00000681290.1:c.13793T>C	ENSP00000505288.1:p.Val4598Ala
ENST00000265104.4:c.13838T>C	ENSP00000265104.4:p.Val4613Ala
NM_001369.2:c.13838T>C	NP_001360.1:p.Val4613Ala
XM_005248262.2:c.13793T>C	XP_005248319.1:p.Val4598Ala
XM_005248262.3:c.13946T>C	XP_005248319.2:p.Val4649Ala
XM_017009177.1:c.13526T>C	XP_016864666.1:p.Val4509Ala
XM_017009178.1:c.12851T>C	XP_016864667.1:p.Val4284Ala
XM_017009179.2:c.12851T>C	XP_016864668.1:p.Val4284Ala
XM_017009185.1:c.9035T>C	XP_016864674.1:p.Val3012Ala
XM_017009186.1:c.8588T>C	XP_016864675.1:p.Val2863Ala
XM_017009188.1:c.7925T>C	XP_016864677.1:p.Val2642Ala
XM_024454388.1:c.12851T>C	XP_024310156.1:p.Val4284Ala
XM_024454389.1:c.12440T>C	XP_024310157.1:p.Val4147Ala
NM_001369.3:c.13838T>C MANE Select	NP_001360.1:p.Val4613Ala