Canonical Allele Identifier: CA359192242

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753622G>C (hg19) ; chr5:g.13753513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753513G>C , CM000667.2:g.13753513G>C	GRCh38
NC_000005.9:g.13753622G>C , CM000667.1:g.13753622G>C	GRCh37
NC_000005.8:g.13806622G>C	NCBI36
NG_013081.1:g.195968C>G
NG_013081.2:g.195968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10592C>G MANE Select	ENSP00000265104.4:p.Ser3531Cys
ENST00000681290.1:c.10547C>G	ENSP00000505288.1:p.Ser3516Cys
ENST00000265104.4:c.10592C>G	ENSP00000265104.4:p.Ser3531Cys
NM_001369.2:c.10592C>G	NP_001360.1:p.Ser3531Cys
XM_005248262.2:c.10547C>G	XP_005248319.1:p.Ser3516Cys
XM_005248262.3:c.10700C>G	XP_005248319.2:p.Ser3567Cys
XM_017009177.1:c.10700C>G	XP_016864666.1:p.Ser3567Cys
XM_017009178.1:c.9605C>G	XP_016864667.1:p.Ser3202Cys
XM_017009179.2:c.9605C>G	XP_016864668.1:p.Ser3202Cys
XM_017009180.1:c.10700C>G	XP_016864669.1:p.Ser3567Cys
XM_017009181.1:c.10700C>G	XP_016864670.1:p.Ser3567Cys
XM_017009182.1:c.10700C>G	XP_016864671.1:p.Ser3567Cys
XM_017009185.1:c.5789C>G	XP_016864674.1:p.Ser1930Cys
XM_017009186.1:c.5342C>G	XP_016864675.1:p.Ser1781Cys
XM_017009188.1:c.4679C>G	XP_016864677.1:p.Ser1560Cys
XM_024454388.1:c.9605C>G	XP_024310156.1:p.Ser3202Cys
XM_024454389.1:c.9194C>G	XP_024310157.1:p.Ser3065Cys
NM_001369.3:c.10592C>G MANE Select	NP_001360.1:p.Ser3531Cys