Canonical Allele Identifier: CA359207436

Gene: DNAH5

Linked Data

• COSMIC: COSM84889
• MyVariant Identifiers: chr5:g.13717530T>G (hg19) ; chr5:g.13717421T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717421T>G , CM000667.2:g.13717421T>G	GRCh38
NC_000005.9:g.13717530T>G , CM000667.1:g.13717530T>G	GRCh37
NC_000005.8:g.13770530T>G	NCBI36
NG_013081.1:g.232060A>C
NG_013081.2:g.232060A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12599A>C MANE Select	ENSP00000265104.4:p.Lys4200Thr
ENST00000681290.1:c.12554A>C	ENSP00000505288.1:p.Lys4185Thr
ENST00000265104.4:c.12599A>C	ENSP00000265104.4:p.Lys4200Thr
NM_001369.2:c.12599A>C	NP_001360.1:p.Lys4200Thr
XM_005248262.2:c.12554A>C	XP_005248319.1:p.Lys4185Thr
XM_005248262.3:c.12707A>C	XP_005248319.2:p.Lys4236Thr
XM_017009177.1:c.12707A>C	XP_016864666.1:p.Lys4236Thr
XM_017009178.1:c.11612A>C	XP_016864667.1:p.Lys3871Thr
XM_017009179.2:c.11612A>C	XP_016864668.1:p.Lys3871Thr
XM_017009180.1:c.12707A>C	XP_016864669.1:p.Lys4236Thr
XM_017009185.1:c.7796A>C	XP_016864674.1:p.Lys2599Thr
XM_017009186.1:c.7349A>C	XP_016864675.1:p.Lys2450Thr
XM_017009188.1:c.6686A>C	XP_016864677.1:p.Lys2229Thr
XM_024454388.1:c.11612A>C	XP_024310156.1:p.Lys3871Thr
XM_024454389.1:c.11201A>C	XP_024310157.1:p.Lys3734Thr
NM_001369.3:c.12599A>C MANE Select	NP_001360.1:p.Lys4200Thr