Canonical Allele Identifier: CA113919241

Gene: DNAH5

Linked Data

• dbSNP Id: rs375694023
• MyVariant Identifiers: chr5:g.13717533C>G (hg19) ; chr5:g.13717424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717424C>G , CM000667.2:g.13717424C>G	GRCh38
NC_000005.9:g.13717533C>G , CM000667.1:g.13717533C>G	GRCh37
NC_000005.8:g.13770533C>G	NCBI36
NG_013081.1:g.232057G>C
NG_013081.2:g.232057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12596G>C MANE Select	ENSP00000265104.4:p.Arg4199Pro
ENST00000681290.1:c.12551G>C	ENSP00000505288.1:p.Arg4184Pro
ENST00000265104.4:c.12596G>C	ENSP00000265104.4:p.Arg4199Pro
NM_001369.2:c.12596G>C	NP_001360.1:p.Arg4199Pro
XM_005248262.2:c.12551G>C	XP_005248319.1:p.Arg4184Pro
XM_005248262.3:c.12704G>C	XP_005248319.2:p.Arg4235Pro
XM_017009177.1:c.12704G>C	XP_016864666.1:p.Arg4235Pro
XM_017009178.1:c.11609G>C	XP_016864667.1:p.Arg3870Pro
XM_017009179.2:c.11609G>C	XP_016864668.1:p.Arg3870Pro
XM_017009180.1:c.12704G>C	XP_016864669.1:p.Arg4235Pro
XM_017009185.1:c.7793G>C	XP_016864674.1:p.Arg2598Pro
XM_017009186.1:c.7346G>C	XP_016864675.1:p.Arg2449Pro
XM_017009188.1:c.6683G>C	XP_016864677.1:p.Arg2228Pro
XM_024454388.1:c.11609G>C	XP_024310156.1:p.Arg3870Pro
XM_024454389.1:c.11198G>C	XP_024310157.1:p.Arg3733Pro
NM_001369.3:c.12596G>C MANE Select	NP_001360.1:p.Arg4199Pro