Canonical Allele Identifier: CA359205894

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717426T>A (hg19) ; chr5:g.13717317T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717317T>A , CM000667.2:g.13717317T>A	GRCh38
NC_000005.9:g.13717426T>A , CM000667.1:g.13717426T>A	GRCh37
NC_000005.8:g.13770426T>A	NCBI36
NG_013081.1:g.232164A>T
NG_013081.2:g.232164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12703A>T MANE Select	ENSP00000265104.4:p.Lys4235Ter
ENST00000681290.1:c.12658A>T	ENSP00000505288.1:p.Lys4220Ter
ENST00000265104.4:c.12703A>T	ENSP00000265104.4:p.Lys4235Ter
NM_001369.2:c.12703A>T	NP_001360.1:p.Lys4235Ter
XM_005248262.2:c.12658A>T	XP_005248319.1:p.Lys4220Ter
XM_005248262.3:c.12811A>T	XP_005248319.2:p.Lys4271Ter
XM_017009177.1:c.12811A>T	XP_016864666.1:p.Lys4271Ter
XM_017009178.1:c.11716A>T	XP_016864667.1:p.Lys3906Ter
XM_017009179.2:c.11716A>T	XP_016864668.1:p.Lys3906Ter
XM_017009180.1:c.12811A>T	XP_016864669.1:p.Lys4271Ter
XM_017009185.1:c.7900A>T	XP_016864674.1:p.Lys2634Ter
XM_017009186.1:c.7453A>T	XP_016864675.1:p.Lys2485Ter
XM_017009188.1:c.6790A>T	XP_016864677.1:p.Lys2264Ter
XM_024454388.1:c.11716A>T	XP_024310156.1:p.Lys3906Ter
XM_024454389.1:c.11305A>T	XP_024310157.1:p.Lys3769Ter
NM_001369.3:c.12703A>T MANE Select	NP_001360.1:p.Lys4235Ter