Canonical Allele Identifier: CA359192808

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701461C>G (hg19) ; chr5:g.13701352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701352C>G , CM000667.2:g.13701352C>G	GRCh38
NC_000005.9:g.13701461C>G , CM000667.1:g.13701461C>G	GRCh37
NC_000005.8:g.13754461C>G	NCBI36
NG_013081.1:g.248129G>C
NG_013081.2:g.248129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.756G>C
ENST00000265104.5:c.13423G>C MANE Select	ENSP00000265104.4:p.Gly4475Arg
ENST00000681290.1:c.13378G>C	ENSP00000505288.1:p.Gly4460Arg
ENST00000265104.4:c.13423G>C	ENSP00000265104.4:p.Gly4475Arg
NM_001369.2:c.13423G>C	NP_001360.1:p.Gly4475Arg
XM_005248262.2:c.13378G>C	XP_005248319.1:p.Gly4460Arg
XM_005248262.3:c.13531G>C	XP_005248319.2:p.Gly4511Arg
XM_017009177.1:c.13111G>C	XP_016864666.1:p.Gly4371Arg
XM_017009178.1:c.12436G>C	XP_016864667.1:p.Gly4146Arg
XM_017009179.2:c.12436G>C	XP_016864668.1:p.Gly4146Arg
XM_017009185.1:c.8620G>C	XP_016864674.1:p.Gly2874Arg
XM_017009186.1:c.8173G>C	XP_016864675.1:p.Gly2725Arg
XM_017009188.1:c.7510G>C	XP_016864677.1:p.Gly2504Arg
XM_024454388.1:c.12436G>C	XP_024310156.1:p.Gly4146Arg
XM_024454389.1:c.12025G>C	XP_024310157.1:p.Gly4009Arg
NM_001369.3:c.13423G>C MANE Select	NP_001360.1:p.Gly4475Arg