Canonical Allele Identifier: CA359188485

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692097T>G (hg19) ; chr5:g.13691988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691988T>G , CM000667.2:g.13691988T>G	GRCh38
NC_000005.9:g.13692097T>G , CM000667.1:g.13692097T>G	GRCh37
NC_000005.8:g.13745097T>G	NCBI36
NG_013081.1:g.257493A>C
NG_013081.2:g.257493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1204A>C
ENST00000265104.5:c.13871A>C MANE Select	ENSP00000265104.4:p.Lys4624Thr
ENST00000681290.1:c.13826A>C	ENSP00000505288.1:p.Lys4609Thr
ENST00000265104.4:c.13871A>C	ENSP00000265104.4:p.Lys4624Thr
NM_001369.2:c.13871A>C	NP_001360.1:p.Lys4624Thr
XM_005248262.2:c.13826A>C	XP_005248319.1:p.Lys4609Thr
XM_005248262.3:c.13979A>C	XP_005248319.2:p.Lys4660Thr
XM_017009177.1:c.13559A>C	XP_016864666.1:p.Lys4520Thr
XM_017009178.1:c.12884A>C	XP_016864667.1:p.Lys4295Thr
XM_017009179.2:c.12884A>C	XP_016864668.1:p.Lys4295Thr
XM_017009185.1:c.9068A>C	XP_016864674.1:p.Lys3023Thr
XM_017009186.1:c.8621A>C	XP_016864675.1:p.Lys2874Thr
XM_017009188.1:c.7958A>C	XP_016864677.1:p.Lys2653Thr
XM_024454388.1:c.12884A>C	XP_024310156.1:p.Lys4295Thr
XM_024454389.1:c.12473A>C	XP_024310157.1:p.Lys4158Thr
NM_001369.3:c.13871A>C MANE Select	NP_001360.1:p.Lys4624Thr