Canonical Allele Identifier: CA359223044

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735315T>G (hg19) ; chr5:g.13735206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735206T>G , CM000667.2:g.13735206T>G	GRCh38
NC_000005.9:g.13735315T>G , CM000667.1:g.13735315T>G	GRCh37
NC_000005.8:g.13788315T>G	NCBI36
NG_013081.1:g.214275A>C
NG_013081.2:g.214275A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11686A>C MANE Select	ENSP00000265104.4:p.Thr3896Pro
ENST00000681290.1:c.11641A>C	ENSP00000505288.1:p.Thr3881Pro
ENST00000265104.4:c.11686A>C	ENSP00000265104.4:p.Thr3896Pro
NM_001369.2:c.11686A>C	NP_001360.1:p.Thr3896Pro
XM_005248262.2:c.11641A>C	XP_005248319.1:p.Thr3881Pro
XM_005248262.3:c.11794A>C	XP_005248319.2:p.Thr3932Pro
XM_017009177.1:c.11794A>C	XP_016864666.1:p.Thr3932Pro
XM_017009178.1:c.10699A>C	XP_016864667.1:p.Thr3567Pro
XM_017009179.2:c.10699A>C	XP_016864668.1:p.Thr3567Pro
XM_017009180.1:c.11794A>C	XP_016864669.1:p.Thr3932Pro
XM_017009181.1:c.11794A>C	XP_016864670.1:p.Thr3932Pro
XM_017009185.1:c.6883A>C	XP_016864674.1:p.Thr2295Pro
XM_017009186.1:c.6436A>C	XP_016864675.1:p.Thr2146Pro
XM_017009188.1:c.5773A>C	XP_016864677.1:p.Thr1925Pro
XM_024454388.1:c.10699A>C	XP_024310156.1:p.Thr3567Pro
XM_024454389.1:c.10288A>C	XP_024310157.1:p.Thr3430Pro
NM_001369.3:c.11686A>C MANE Select	NP_001360.1:p.Thr3896Pro