Canonical Allele Identifier: CA359207314

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717521G>C (hg19) ; chr5:g.13717412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717412G>C , CM000667.2:g.13717412G>C	GRCh38
NC_000005.9:g.13717521G>C , CM000667.1:g.13717521G>C	GRCh37
NC_000005.8:g.13770521G>C	NCBI36
NG_013081.1:g.232069C>G
NG_013081.2:g.232069C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12608C>G MANE Select	ENSP00000265104.4:p.Ala4203Gly
ENST00000681290.1:c.12563C>G	ENSP00000505288.1:p.Ala4188Gly
ENST00000265104.4:c.12608C>G	ENSP00000265104.4:p.Ala4203Gly
NM_001369.2:c.12608C>G	NP_001360.1:p.Ala4203Gly
XM_005248262.2:c.12563C>G	XP_005248319.1:p.Ala4188Gly
XM_005248262.3:c.12716C>G	XP_005248319.2:p.Ala4239Gly
XM_017009177.1:c.12716C>G	XP_016864666.1:p.Ala4239Gly
XM_017009178.1:c.11621C>G	XP_016864667.1:p.Ala3874Gly
XM_017009179.2:c.11621C>G	XP_016864668.1:p.Ala3874Gly
XM_017009180.1:c.12716C>G	XP_016864669.1:p.Ala4239Gly
XM_017009185.1:c.7805C>G	XP_016864674.1:p.Ala2602Gly
XM_017009186.1:c.7358C>G	XP_016864675.1:p.Ala2453Gly
XM_017009188.1:c.6695C>G	XP_016864677.1:p.Ala2232Gly
XM_024454388.1:c.11621C>G	XP_024310156.1:p.Ala3874Gly
XM_024454389.1:c.11210C>G	XP_024310157.1:p.Ala3737Gly
NM_001369.3:c.12608C>G MANE Select	NP_001360.1:p.Ala4203Gly