Canonical Allele Identifier: CA443535529

Gene: DNAH5

Linked Data

• dbSNP Id: rs1258331272
• gnomAD v2: 5-13753447-T-C
• gnomAD v3: 5-13753338-T-C
• gnomAD v4: 5-13753338-T-C
• MyVariant Identifiers: chr5:g.13753447T>C (hg19) ; chr5:g.13753338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753338T>C , CM000667.2:g.13753338T>C	GRCh38
NC_000005.9:g.13753447T>C , CM000667.1:g.13753447T>C	GRCh37
NC_000005.8:g.13806447T>C	NCBI36
NG_013081.1:g.196143A>G
NG_013081.2:g.196143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10767A>G MANE Select	ENSP00000265104.4:p.Gln3589=
ENST00000681290.1:c.10722A>G	ENSP00000505288.1:p.Gln3574=
ENST00000265104.4:c.10767A>G	ENSP00000265104.4:p.Gln3589=
NM_001369.2:c.10767A>G	NP_001360.1:p.Gln3589=
XM_005248262.2:c.10722A>G	XP_005248319.1:p.Gln3574=
XM_005248262.3:c.10875A>G	XP_005248319.2:p.Gln3625=
XM_017009177.1:c.10875A>G	XP_016864666.1:p.Gln3625=
XM_017009178.1:c.9780A>G	XP_016864667.1:p.Gln3260=
XM_017009179.2:c.9780A>G	XP_016864668.1:p.Gln3260=
XM_017009180.1:c.10875A>G	XP_016864669.1:p.Gln3625=
XM_017009181.1:c.10875A>G	XP_016864670.1:p.Gln3625=
XM_017009182.1:c.10875A>G	XP_016864671.1:p.Gln3625=
XM_017009185.1:c.5964A>G	XP_016864674.1:p.Gln1988=
XM_017009186.1:c.5517A>G	XP_016864675.1:p.Gln1839=
XM_017009188.1:c.4854A>G	XP_016864677.1:p.Gln1618=
XM_024454388.1:c.9780A>G	XP_024310156.1:p.Gln3260=
XM_024454389.1:c.9369A>G	XP_024310157.1:p.Gln3123=
NM_001369.3:c.10767A>G MANE Select	NP_001360.1:p.Gln3589=