Canonical Allele Identifier: CA359189746

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752271T>C (hg19) ; chr5:g.13752162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752162T>C , CM000667.2:g.13752162T>C	GRCh38
NC_000005.9:g.13752271T>C , CM000667.1:g.13752271T>C	GRCh37
NC_000005.8:g.13805271T>C	NCBI36
NG_013081.1:g.197319A>G
NG_013081.2:g.197319A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11000A>G MANE Select	ENSP00000265104.4:p.Asn3667Ser
ENST00000681290.1:c.10955A>G	ENSP00000505288.1:p.Asn3652Ser
ENST00000265104.4:c.11000A>G	ENSP00000265104.4:p.Asn3667Ser
NM_001369.2:c.11000A>G	NP_001360.1:p.Asn3667Ser
XM_005248262.2:c.10955A>G	XP_005248319.1:p.Asn3652Ser
XM_005248262.3:c.11108A>G	XP_005248319.2:p.Asn3703Ser
XM_017009177.1:c.11108A>G	XP_016864666.1:p.Asn3703Ser
XM_017009178.1:c.10013A>G	XP_016864667.1:p.Asn3338Ser
XM_017009179.2:c.10013A>G	XP_016864668.1:p.Asn3338Ser
XM_017009180.1:c.11108A>G	XP_016864669.1:p.Asn3703Ser
XM_017009181.1:c.11108A>G	XP_016864670.1:p.Asn3703Ser
XM_017009182.1:c.11108A>G	XP_016864671.1:p.Asn3703Ser
XM_017009185.1:c.6197A>G	XP_016864674.1:p.Asn2066Ser
XM_017009186.1:c.5750A>G	XP_016864675.1:p.Asn1917Ser
XM_017009188.1:c.5087A>G	XP_016864677.1:p.Asn1696Ser
XM_024454388.1:c.10013A>G	XP_024310156.1:p.Asn3338Ser
XM_024454389.1:c.9602A>G	XP_024310157.1:p.Asn3201Ser
NM_001369.3:c.11000A>G MANE Select	NP_001360.1:p.Asn3667Ser