Canonical Allele Identifier: CA359225313

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13736036T>C (hg19) ; chr5:g.13735927T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735927T>C , CM000667.2:g.13735927T>C	GRCh38
NC_000005.9:g.13736036T>C , CM000667.1:g.13736036T>C	GRCh37
NC_000005.8:g.13789036T>C	NCBI36
NG_013081.1:g.213554A>G
NG_013081.2:g.213554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11461A>G MANE Select	ENSP00000265104.4:p.Thr3821Ala
ENST00000681290.1:c.11416A>G	ENSP00000505288.1:p.Thr3806Ala
ENST00000265104.4:c.11461A>G	ENSP00000265104.4:p.Thr3821Ala
NM_001369.2:c.11461A>G	NP_001360.1:p.Thr3821Ala
XM_005248262.2:c.11416A>G	XP_005248319.1:p.Thr3806Ala
XM_005248262.3:c.11569A>G	XP_005248319.2:p.Thr3857Ala
XM_017009177.1:c.11569A>G	XP_016864666.1:p.Thr3857Ala
XM_017009178.1:c.10474A>G	XP_016864667.1:p.Thr3492Ala
XM_017009179.2:c.10474A>G	XP_016864668.1:p.Thr3492Ala
XM_017009180.1:c.11569A>G	XP_016864669.1:p.Thr3857Ala
XM_017009181.1:c.11569A>G	XP_016864670.1:p.Thr3857Ala
XM_017009182.1:c.11325A>G	XP_016864671.1:p.Leu3775=
XM_017009185.1:c.6658A>G	XP_016864674.1:p.Thr2220Ala
XM_017009186.1:c.6211A>G	XP_016864675.1:p.Thr2071Ala
XM_017009188.1:c.5548A>G	XP_016864677.1:p.Thr1850Ala
XM_024454388.1:c.10474A>G	XP_024310156.1:p.Thr3492Ala
XM_024454389.1:c.10063A>G	XP_024310157.1:p.Thr3355Ala
NM_001369.3:c.11461A>G MANE Select	NP_001360.1:p.Thr3821Ala