Canonical Allele Identifier: CA443248771

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692089-T-C
• MyVariant Identifiers: chr5:g.13692198T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692089T>C , CM000667.2:g.13692089T>C	GRCh38
NC_000005.9:g.13692198T>C , CM000667.1:g.13692198T>C	GRCh37
NC_000005.8:g.13745198T>C	NCBI36
NG_013081.1:g.257392A>G
NG_013081.2:g.257392A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1103A>G
ENST00000265104.5:c.13770A>G MANE Select	ENSP00000265104.4:p.Pro4590=
ENST00000681290.1:c.13725A>G	ENSP00000505288.1:p.Pro4575=
ENST00000265104.4:c.13770A>G	ENSP00000265104.4:p.Pro4590=
NM_001369.2:c.13770A>G	NP_001360.1:p.Pro4590=
XM_005248262.2:c.13725A>G	XP_005248319.1:p.Pro4575=
XM_005248262.3:c.13878A>G	XP_005248319.2:p.Pro4626=
XM_017009177.1:c.13458A>G	XP_016864666.1:p.Pro4486=
XM_017009178.1:c.12783A>G	XP_016864667.1:p.Pro4261=
XM_017009179.2:c.12783A>G	XP_016864668.1:p.Pro4261=
XM_017009185.1:c.8967A>G	XP_016864674.1:p.Pro2989=
XM_017009186.1:c.8520A>G	XP_016864675.1:p.Pro2840=
XM_017009188.1:c.7857A>G	XP_016864677.1:p.Pro2619=
XM_024454388.1:c.12783A>G	XP_024310156.1:p.Pro4261=
XM_024454389.1:c.12372A>G	XP_024310157.1:p.Pro4124=
NM_001369.3:c.13770A>G MANE Select	NP_001360.1:p.Pro4590=