Canonical Allele Identifier: CA359189748

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11000A>C MANE Select	ENSP00000265104.4:p.Asn3667Thr
ENST00000681290.1:c.10955A>C	ENSP00000505288.1:p.Asn3652Thr
ENST00000265104.4:c.11000A>C	ENSP00000265104.4:p.Asn3667Thr
NM_001369.2:c.11000A>C	NP_001360.1:p.Asn3667Thr
XM_005248262.2:c.10955A>C	XP_005248319.1:p.Asn3652Thr
XM_005248262.3:c.11108A>C	XP_005248319.2:p.Asn3703Thr
XM_017009177.1:c.11108A>C	XP_016864666.1:p.Asn3703Thr
XM_017009178.1:c.10013A>C	XP_016864667.1:p.Asn3338Thr
XM_017009179.2:c.10013A>C	XP_016864668.1:p.Asn3338Thr
XM_017009180.1:c.11108A>C	XP_016864669.1:p.Asn3703Thr
XM_017009181.1:c.11108A>C	XP_016864670.1:p.Asn3703Thr
XM_017009182.1:c.11108A>C	XP_016864671.1:p.Asn3703Thr
XM_017009185.1:c.6197A>C	XP_016864674.1:p.Asn2066Thr
XM_017009186.1:c.5750A>C	XP_016864675.1:p.Asn1917Thr
XM_017009188.1:c.5087A>C	XP_016864677.1:p.Asn1696Thr
XM_024454388.1:c.10013A>C	XP_024310156.1:p.Asn3338Thr
XM_024454389.1:c.9602A>C	XP_024310157.1:p.Asn3201Thr
NM_001369.3:c.11000A>C MANE Select	NP_001360.1:p.Asn3667Thr