Canonical Allele Identifier: CA359192261

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753626A>C (hg19) ; chr5:g.13753517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753517A>C , CM000667.2:g.13753517A>C	GRCh38
NC_000005.9:g.13753626A>C , CM000667.1:g.13753626A>C	GRCh37
NC_000005.8:g.13806626A>C	NCBI36
NG_013081.1:g.195964T>G
NG_013081.2:g.195964T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10588T>G MANE Select	ENSP00000265104.4:p.Tyr3530Asp
ENST00000681290.1:c.10543T>G	ENSP00000505288.1:p.Tyr3515Asp
ENST00000265104.4:c.10588T>G	ENSP00000265104.4:p.Tyr3530Asp
NM_001369.2:c.10588T>G	NP_001360.1:p.Tyr3530Asp
XM_005248262.2:c.10543T>G	XP_005248319.1:p.Tyr3515Asp
XM_005248262.3:c.10696T>G	XP_005248319.2:p.Tyr3566Asp
XM_017009177.1:c.10696T>G	XP_016864666.1:p.Tyr3566Asp
XM_017009178.1:c.9601T>G	XP_016864667.1:p.Tyr3201Asp
XM_017009179.2:c.9601T>G	XP_016864668.1:p.Tyr3201Asp
XM_017009180.1:c.10696T>G	XP_016864669.1:p.Tyr3566Asp
XM_017009181.1:c.10696T>G	XP_016864670.1:p.Tyr3566Asp
XM_017009182.1:c.10696T>G	XP_016864671.1:p.Tyr3566Asp
XM_017009185.1:c.5785T>G	XP_016864674.1:p.Tyr1929Asp
XM_017009186.1:c.5338T>G	XP_016864675.1:p.Tyr1780Asp
XM_017009188.1:c.4675T>G	XP_016864677.1:p.Tyr1559Asp
XM_024454388.1:c.9601T>G	XP_024310156.1:p.Tyr3201Asp
XM_024454389.1:c.9190T>G	XP_024310157.1:p.Tyr3064Asp
NM_001369.3:c.10588T>G MANE Select	NP_001360.1:p.Tyr3530Asp