Canonical Allele Identifier: CA359207461

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717531T>A (hg19) ; chr5:g.13717422T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717422T>A , CM000667.2:g.13717422T>A	GRCh38
NC_000005.9:g.13717531T>A , CM000667.1:g.13717531T>A	GRCh37
NC_000005.8:g.13770531T>A	NCBI36
NG_013081.1:g.232059A>T
NG_013081.2:g.232059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12598A>T MANE Select	ENSP00000265104.4:p.Lys4200Ter
ENST00000681290.1:c.12553A>T	ENSP00000505288.1:p.Lys4185Ter
ENST00000265104.4:c.12598A>T	ENSP00000265104.4:p.Lys4200Ter
NM_001369.2:c.12598A>T	NP_001360.1:p.Lys4200Ter
XM_005248262.2:c.12553A>T	XP_005248319.1:p.Lys4185Ter
XM_005248262.3:c.12706A>T	XP_005248319.2:p.Lys4236Ter
XM_017009177.1:c.12706A>T	XP_016864666.1:p.Lys4236Ter
XM_017009178.1:c.11611A>T	XP_016864667.1:p.Lys3871Ter
XM_017009179.2:c.11611A>T	XP_016864668.1:p.Lys3871Ter
XM_017009180.1:c.12706A>T	XP_016864669.1:p.Lys4236Ter
XM_017009185.1:c.7795A>T	XP_016864674.1:p.Lys2599Ter
XM_017009186.1:c.7348A>T	XP_016864675.1:p.Lys2450Ter
XM_017009188.1:c.6685A>T	XP_016864677.1:p.Lys2229Ter
XM_024454388.1:c.11611A>T	XP_024310156.1:p.Lys3871Ter
XM_024454389.1:c.11200A>T	XP_024310157.1:p.Lys3734Ter
NM_001369.3:c.12598A>T MANE Select	NP_001360.1:p.Lys4200Ter