Canonical Allele Identifier: CA359191635

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 3083973
• ClinVar RCV Id: RCV004376779
• COSMIC: COSM5049032
• MyVariant Identifiers: chr5:g.13753503G>C (hg19) ; chr5:g.13753394G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753394G>C , CM000667.2:g.13753394G>C	GRCh38
NC_000005.9:g.13753503G>C , CM000667.1:g.13753503G>C	GRCh37
NC_000005.8:g.13806503G>C	NCBI36
NG_013081.1:g.196087C>G
NG_013081.2:g.196087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10711C>G MANE Select	ENSP00000265104.4:p.Pro3571Ala
ENST00000681290.1:c.10666C>G	ENSP00000505288.1:p.Pro3556Ala
ENST00000265104.4:c.10711C>G	ENSP00000265104.4:p.Pro3571Ala
NM_001369.2:c.10711C>G	NP_001360.1:p.Pro3571Ala
XM_005248262.2:c.10666C>G	XP_005248319.1:p.Pro3556Ala
XM_005248262.3:c.10819C>G	XP_005248319.2:p.Pro3607Ala
XM_017009177.1:c.10819C>G	XP_016864666.1:p.Pro3607Ala
XM_017009178.1:c.9724C>G	XP_016864667.1:p.Pro3242Ala
XM_017009179.2:c.9724C>G	XP_016864668.1:p.Pro3242Ala
XM_017009180.1:c.10819C>G	XP_016864669.1:p.Pro3607Ala
XM_017009181.1:c.10819C>G	XP_016864670.1:p.Pro3607Ala
XM_017009182.1:c.10819C>G	XP_016864671.1:p.Pro3607Ala
XM_017009185.1:c.5908C>G	XP_016864674.1:p.Pro1970Ala
XM_017009186.1:c.5461C>G	XP_016864675.1:p.Pro1821Ala
XM_017009188.1:c.4798C>G	XP_016864677.1:p.Pro1600Ala
XM_024454388.1:c.9724C>G	XP_024310156.1:p.Pro3242Ala
XM_024454389.1:c.9313C>G	XP_024310157.1:p.Pro3105Ala
NM_001369.3:c.10711C>G MANE Select	NP_001360.1:p.Pro3571Ala