Canonical Allele Identifier: CA359188509

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692107A>G (hg19) ; chr5:g.13691998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691998A>G , CM000667.2:g.13691998A>G	GRCh38
NC_000005.9:g.13692107A>G , CM000667.1:g.13692107A>G	GRCh37
NC_000005.8:g.13745107A>G	NCBI36
NG_013081.1:g.257483T>C
NG_013081.2:g.257483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1194T>C
ENST00000265104.5:c.13861T>C MANE Select	ENSP00000265104.4:p.Cys4621Arg
ENST00000681290.1:c.13816T>C	ENSP00000505288.1:p.Cys4606Arg
ENST00000265104.4:c.13861T>C	ENSP00000265104.4:p.Cys4621Arg
NM_001369.2:c.13861T>C	NP_001360.1:p.Cys4621Arg
XM_005248262.2:c.13816T>C	XP_005248319.1:p.Cys4606Arg
XM_005248262.3:c.13969T>C	XP_005248319.2:p.Cys4657Arg
XM_017009177.1:c.13549T>C	XP_016864666.1:p.Cys4517Arg
XM_017009178.1:c.12874T>C	XP_016864667.1:p.Cys4292Arg
XM_017009179.2:c.12874T>C	XP_016864668.1:p.Cys4292Arg
XM_017009185.1:c.9058T>C	XP_016864674.1:p.Cys3020Arg
XM_017009186.1:c.8611T>C	XP_016864675.1:p.Cys2871Arg
XM_017009188.1:c.7948T>C	XP_016864677.1:p.Cys2650Arg
XM_024454388.1:c.12874T>C	XP_024310156.1:p.Cys4292Arg
XM_024454389.1:c.12463T>C	XP_024310157.1:p.Cys4155Arg
NM_001369.3:c.13861T>C MANE Select	NP_001360.1:p.Cys4621Arg