Canonical Allele Identifier: CA443250524

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701410A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701301A>G , CM000667.2:g.13701301A>G	GRCh38
NC_000005.9:g.13701410A>G , CM000667.1:g.13701410A>G	GRCh37
NC_000005.8:g.13754410A>G	NCBI36
NG_013081.1:g.248180T>C
NG_013081.2:g.248180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.807T>C
ENST00000265104.5:c.13474T>C MANE Select	ENSP00000265104.4:p.Leu4492=
ENST00000681290.1:c.13429T>C	ENSP00000505288.1:p.Leu4477=
ENST00000265104.4:c.13474T>C	ENSP00000265104.4:p.Leu4492=
NM_001369.2:c.13474T>C	NP_001360.1:p.Leu4492=
XM_005248262.2:c.13429T>C	XP_005248319.1:p.Leu4477=
XM_005248262.3:c.13582T>C	XP_005248319.2:p.Leu4528=
XM_017009177.1:c.13162T>C	XP_016864666.1:p.Leu4388=
XM_017009178.1:c.12487T>C	XP_016864667.1:p.Leu4163=
XM_017009179.2:c.12487T>C	XP_016864668.1:p.Leu4163=
XM_017009185.1:c.8671T>C	XP_016864674.1:p.Leu2891=
XM_017009186.1:c.8224T>C	XP_016864675.1:p.Leu2742=
XM_017009188.1:c.7561T>C	XP_016864677.1:p.Leu2521=
XM_024454388.1:c.12487T>C	XP_024310156.1:p.Leu4163=
XM_024454389.1:c.12076T>C	XP_024310157.1:p.Leu4026=
NM_001369.3:c.13474T>C MANE Select	NP_001360.1:p.Leu4492=