Canonical Allele Identifier: CA359207315

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717522C>A (hg19) ; chr5:g.13717413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717413C>A , CM000667.2:g.13717413C>A	GRCh38
NC_000005.9:g.13717522C>A , CM000667.1:g.13717522C>A	GRCh37
NC_000005.8:g.13770522C>A	NCBI36
NG_013081.1:g.232068G>T
NG_013081.2:g.232068G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12607G>T MANE Select	ENSP00000265104.4:p.Ala4203Ser
ENST00000681290.1:c.12562G>T	ENSP00000505288.1:p.Ala4188Ser
ENST00000265104.4:c.12607G>T	ENSP00000265104.4:p.Ala4203Ser
NM_001369.2:c.12607G>T	NP_001360.1:p.Ala4203Ser
XM_005248262.2:c.12562G>T	XP_005248319.1:p.Ala4188Ser
XM_005248262.3:c.12715G>T	XP_005248319.2:p.Ala4239Ser
XM_017009177.1:c.12715G>T	XP_016864666.1:p.Ala4239Ser
XM_017009178.1:c.11620G>T	XP_016864667.1:p.Ala3874Ser
XM_017009179.2:c.11620G>T	XP_016864668.1:p.Ala3874Ser
XM_017009180.1:c.12715G>T	XP_016864669.1:p.Ala4239Ser
XM_017009185.1:c.7804G>T	XP_016864674.1:p.Ala2602Ser
XM_017009186.1:c.7357G>T	XP_016864675.1:p.Ala2453Ser
XM_017009188.1:c.6694G>T	XP_016864677.1:p.Ala2232Ser
XM_024454388.1:c.11620G>T	XP_024310156.1:p.Ala3874Ser
XM_024454389.1:c.11209G>T	XP_024310157.1:p.Ala3737Ser
NM_001369.3:c.12607G>T MANE Select	NP_001360.1:p.Ala4203Ser