Canonical Allele Identifier: CA359188512

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692109A>G (hg19) ; chr5:g.13692000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692000A>G , CM000667.2:g.13692000A>G	GRCh38
NC_000005.9:g.13692109A>G , CM000667.1:g.13692109A>G	GRCh37
NC_000005.8:g.13745109A>G	NCBI36
NG_013081.1:g.257481T>C
NG_013081.2:g.257481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1192T>C
ENST00000265104.5:c.13859T>C MANE Select	ENSP00000265104.4:p.Leu4620Pro
ENST00000681290.1:c.13814T>C	ENSP00000505288.1:p.Leu4605Pro
ENST00000265104.4:c.13859T>C	ENSP00000265104.4:p.Leu4620Pro
NM_001369.2:c.13859T>C	NP_001360.1:p.Leu4620Pro
XM_005248262.2:c.13814T>C	XP_005248319.1:p.Leu4605Pro
XM_005248262.3:c.13967T>C	XP_005248319.2:p.Leu4656Pro
XM_017009177.1:c.13547T>C	XP_016864666.1:p.Leu4516Pro
XM_017009178.1:c.12872T>C	XP_016864667.1:p.Leu4291Pro
XM_017009179.2:c.12872T>C	XP_016864668.1:p.Leu4291Pro
XM_017009185.1:c.9056T>C	XP_016864674.1:p.Leu3019Pro
XM_017009186.1:c.8609T>C	XP_016864675.1:p.Leu2870Pro
XM_017009188.1:c.7946T>C	XP_016864677.1:p.Leu2649Pro
XM_024454388.1:c.12872T>C	XP_024310156.1:p.Leu4291Pro
XM_024454389.1:c.12461T>C	XP_024310157.1:p.Leu4154Pro
NM_001369.3:c.13859T>C MANE Select	NP_001360.1:p.Leu4620Pro