Canonical Allele Identifier: CA443254681

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717523A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717414A>G , CM000667.2:g.13717414A>G	GRCh38
NC_000005.9:g.13717523A>G , CM000667.1:g.13717523A>G	GRCh37
NC_000005.8:g.13770523A>G	NCBI36
NG_013081.1:g.232067T>C
NG_013081.2:g.232067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12606T>C MANE Select	ENSP00000265104.4:p.Gly4202=
ENST00000681290.1:c.12561T>C	ENSP00000505288.1:p.Gly4187=
ENST00000265104.4:c.12606T>C	ENSP00000265104.4:p.Gly4202=
NM_001369.2:c.12606T>C	NP_001360.1:p.Gly4202=
XM_005248262.2:c.12561T>C	XP_005248319.1:p.Gly4187=
XM_005248262.3:c.12714T>C	XP_005248319.2:p.Gly4238=
XM_017009177.1:c.12714T>C	XP_016864666.1:p.Gly4238=
XM_017009178.1:c.11619T>C	XP_016864667.1:p.Gly3873=
XM_017009179.2:c.11619T>C	XP_016864668.1:p.Gly3873=
XM_017009180.1:c.12714T>C	XP_016864669.1:p.Gly4238=
XM_017009185.1:c.7803T>C	XP_016864674.1:p.Gly2601=
XM_017009186.1:c.7356T>C	XP_016864675.1:p.Gly2452=
XM_017009188.1:c.6693T>C	XP_016864677.1:p.Gly2231=
XM_024454388.1:c.11619T>C	XP_024310156.1:p.Gly3873=
XM_024454389.1:c.11208T>C	XP_024310157.1:p.Gly3736=
NM_001369.3:c.12606T>C MANE Select	NP_001360.1:p.Gly4202=