Canonical Allele Identifier: CA113954648

Gene: DNAH5

Linked Data

• dbSNP Id: rs200862267
• MyVariant Identifiers: chr5:g.13845052T>C (hg19) ; chr5:g.13844943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844943T>C , CM000667.2:g.13844943T>C	GRCh38
NC_000005.9:g.13845052T>C , CM000667.1:g.13845052T>C	GRCh37
NC_000005.8:g.13898052T>C	NCBI36
NG_013081.1:g.104538A>G
NG_013081.2:g.104538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5165A>G MANE Select	ENSP00000265104.4:p.Asp1722Gly
ENST00000681290.1:c.5120A>G	ENSP00000505288.1:p.Asp1707Gly
ENST00000265104.4:c.5165A>G	ENSP00000265104.4:p.Asp1722Gly
NM_001369.2:c.5165A>G	NP_001360.1:p.Asp1722Gly
XM_005248262.2:c.5120A>G	XP_005248319.1:p.Asp1707Gly
XM_011513990.1:c.5165A>G	XP_011512292.1:p.Asp1722Gly
XR_925598.1:n.5372A>G
XM_005248262.3:c.5273A>G	XP_005248319.2:p.Asp1758Gly
XM_017009177.1:c.5273A>G	XP_016864666.1:p.Asp1758Gly
XM_017009178.1:c.4178A>G	XP_016864667.1:p.Asp1393Gly
XM_017009179.2:c.4178A>G	XP_016864668.1:p.Asp1393Gly
XM_017009180.1:c.5273A>G	XP_016864669.1:p.Asp1758Gly
XM_017009181.1:c.5273A>G	XP_016864670.1:p.Asp1758Gly
XM_017009182.1:c.5273A>G	XP_016864671.1:p.Asp1758Gly
XM_017009183.1:c.5273A>G	XP_016864672.1:p.Asp1758Gly
XM_017009184.1:c.5273A>G	XP_016864673.1:p.Asp1758Gly
XM_017009185.1:c.362A>G	XP_016864674.1:p.Asp121Gly
XM_017009186.1:c.22-3039A>G	XP_016864675.1:n.22-3039A>G
XM_017009187.1:c.5273A>G	XP_016864676.1:p.Asp1758Gly
XM_024454388.1:c.4178A>G	XP_024310156.1:p.Asp1393Gly
XM_024454389.1:c.3767A>G	XP_024310157.1:p.Asp1256Gly
XR_001742034.1:n.5290A>G
XR_001742035.1:n.5290A>G
NM_001369.3:c.5165A>G MANE Select	NP_001360.1:p.Asp1722Gly