Canonical Allele Identifier: CA359188605

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692155T>G (hg19) ; chr5:g.13692046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692046T>G , CM000667.2:g.13692046T>G	GRCh38
NC_000005.9:g.13692155T>G , CM000667.1:g.13692155T>G	GRCh37
NC_000005.8:g.13745155T>G	NCBI36
NG_013081.1:g.257435A>C
NG_013081.2:g.257435A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1146A>C
ENST00000265104.5:c.13813A>C MANE Select	ENSP00000265104.4:p.Thr4605Pro
ENST00000681290.1:c.13768A>C	ENSP00000505288.1:p.Thr4590Pro
ENST00000265104.4:c.13813A>C	ENSP00000265104.4:p.Thr4605Pro
NM_001369.2:c.13813A>C	NP_001360.1:p.Thr4605Pro
XM_005248262.2:c.13768A>C	XP_005248319.1:p.Thr4590Pro
XM_005248262.3:c.13921A>C	XP_005248319.2:p.Thr4641Pro
XM_017009177.1:c.13501A>C	XP_016864666.1:p.Thr4501Pro
XM_017009178.1:c.12826A>C	XP_016864667.1:p.Thr4276Pro
XM_017009179.2:c.12826A>C	XP_016864668.1:p.Thr4276Pro
XM_017009185.1:c.9010A>C	XP_016864674.1:p.Thr3004Pro
XM_017009186.1:c.8563A>C	XP_016864675.1:p.Thr2855Pro
XM_017009188.1:c.7900A>C	XP_016864677.1:p.Thr2634Pro
XM_024454388.1:c.12826A>C	XP_024310156.1:p.Thr4276Pro
XM_024454389.1:c.12415A>C	XP_024310157.1:p.Thr4139Pro
NM_001369.3:c.13813A>C MANE Select	NP_001360.1:p.Thr4605Pro