Canonical Allele Identifier: CA359207361

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717525C>G (hg19) ; chr5:g.13717416C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717416C>G , CM000667.2:g.13717416C>G	GRCh38
NC_000005.9:g.13717525C>G , CM000667.1:g.13717525C>G	GRCh37
NC_000005.8:g.13770525C>G	NCBI36
NG_013081.1:g.232065G>C
NG_013081.2:g.232065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12604G>C MANE Select	ENSP00000265104.4:p.Gly4202Arg
ENST00000681290.1:c.12559G>C	ENSP00000505288.1:p.Gly4187Arg
ENST00000265104.4:c.12604G>C	ENSP00000265104.4:p.Gly4202Arg
NM_001369.2:c.12604G>C	NP_001360.1:p.Gly4202Arg
XM_005248262.2:c.12559G>C	XP_005248319.1:p.Gly4187Arg
XM_005248262.3:c.12712G>C	XP_005248319.2:p.Gly4238Arg
XM_017009177.1:c.12712G>C	XP_016864666.1:p.Gly4238Arg
XM_017009178.1:c.11617G>C	XP_016864667.1:p.Gly3873Arg
XM_017009179.2:c.11617G>C	XP_016864668.1:p.Gly3873Arg
XM_017009180.1:c.12712G>C	XP_016864669.1:p.Gly4238Arg
XM_017009185.1:c.7801G>C	XP_016864674.1:p.Gly2601Arg
XM_017009186.1:c.7354G>C	XP_016864675.1:p.Gly2452Arg
XM_017009188.1:c.6691G>C	XP_016864677.1:p.Gly2231Arg
XM_024454388.1:c.11617G>C	XP_024310156.1:p.Gly3873Arg
XM_024454389.1:c.11206G>C	XP_024310157.1:p.Gly3736Arg
NM_001369.3:c.12604G>C MANE Select	NP_001360.1:p.Gly4202Arg