Canonical Allele Identifier: CA359188769

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692235T>G (hg19) ; chr5:g.13692126T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692126T>G , CM000667.2:g.13692126T>G	GRCh38
NC_000005.9:g.13692235T>G , CM000667.1:g.13692235T>G	GRCh37
NC_000005.8:g.13745235T>G	NCBI36
NG_013081.1:g.257355A>C
NG_013081.2:g.257355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1066A>C
ENST00000265104.5:c.13733A>C MANE Select	ENSP00000265104.4:p.Asp4578Ala
ENST00000681290.1:c.13688A>C	ENSP00000505288.1:p.Asp4563Ala
ENST00000265104.4:c.13733A>C	ENSP00000265104.4:p.Asp4578Ala
NM_001369.2:c.13733A>C	NP_001360.1:p.Asp4578Ala
XM_005248262.2:c.13688A>C	XP_005248319.1:p.Asp4563Ala
XM_005248262.3:c.13841A>C	XP_005248319.2:p.Asp4614Ala
XM_017009177.1:c.13421A>C	XP_016864666.1:p.Asp4474Ala
XM_017009178.1:c.12746A>C	XP_016864667.1:p.Asp4249Ala
XM_017009179.2:c.12746A>C	XP_016864668.1:p.Asp4249Ala
XM_017009185.1:c.8930A>C	XP_016864674.1:p.Asp2977Ala
XM_017009186.1:c.8483A>C	XP_016864675.1:p.Asp2828Ala
XM_017009188.1:c.7820A>C	XP_016864677.1:p.Asp2607Ala
XM_024454388.1:c.12746A>C	XP_024310156.1:p.Asp4249Ala
XM_024454389.1:c.12335A>C	XP_024310157.1:p.Asp4112Ala
NM_001369.3:c.13733A>C MANE Select	NP_001360.1:p.Asp4578Ala