Canonical Allele Identifier: CA443248720

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692168A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692059A>G , CM000667.2:g.13692059A>G	GRCh38
NC_000005.9:g.13692168A>G , CM000667.1:g.13692168A>G	GRCh37
NC_000005.8:g.13745168A>G	NCBI36
NG_013081.1:g.257422T>C
NG_013081.2:g.257422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1133T>C
ENST00000265104.5:c.13800T>C MANE Select	ENSP00000265104.4:p.Ala4600=
ENST00000681290.1:c.13755T>C	ENSP00000505288.1:p.Ala4585=
ENST00000265104.4:c.13800T>C	ENSP00000265104.4:p.Ala4600=
NM_001369.2:c.13800T>C	NP_001360.1:p.Ala4600=
XM_005248262.2:c.13755T>C	XP_005248319.1:p.Ala4585=
XM_005248262.3:c.13908T>C	XP_005248319.2:p.Ala4636=
XM_017009177.1:c.13488T>C	XP_016864666.1:p.Ala4496=
XM_017009178.1:c.12813T>C	XP_016864667.1:p.Ala4271=
XM_017009179.2:c.12813T>C	XP_016864668.1:p.Ala4271=
XM_017009185.1:c.8997T>C	XP_016864674.1:p.Ala2999=
XM_017009186.1:c.8550T>C	XP_016864675.1:p.Ala2850=
XM_017009188.1:c.7887T>C	XP_016864677.1:p.Ala2629=
XM_024454388.1:c.12813T>C	XP_024310156.1:p.Ala4271=
XM_024454389.1:c.12402T>C	XP_024310157.1:p.Ala4134=
NM_001369.3:c.13800T>C MANE Select	NP_001360.1:p.Ala4600=