Canonical Allele Identifier: CA359188707

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692206T>A (hg19) ; chr5:g.13692097T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692097T>A , CM000667.2:g.13692097T>A	GRCh38
NC_000005.9:g.13692206T>A , CM000667.1:g.13692206T>A	GRCh37
NC_000005.8:g.13745206T>A	NCBI36
NG_013081.1:g.257384A>T
NG_013081.2:g.257384A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1095A>T
ENST00000265104.5:c.13762A>T MANE Select	ENSP00000265104.4:p.Lys4588Ter
ENST00000681290.1:c.13717A>T	ENSP00000505288.1:p.Lys4573Ter
ENST00000265104.4:c.13762A>T	ENSP00000265104.4:p.Lys4588Ter
NM_001369.2:c.13762A>T	NP_001360.1:p.Lys4588Ter
XM_005248262.2:c.13717A>T	XP_005248319.1:p.Lys4573Ter
XM_005248262.3:c.13870A>T	XP_005248319.2:p.Lys4624Ter
XM_017009177.1:c.13450A>T	XP_016864666.1:p.Lys4484Ter
XM_017009178.1:c.12775A>T	XP_016864667.1:p.Lys4259Ter
XM_017009179.2:c.12775A>T	XP_016864668.1:p.Lys4259Ter
XM_017009185.1:c.8959A>T	XP_016864674.1:p.Lys2987Ter
XM_017009186.1:c.8512A>T	XP_016864675.1:p.Lys2838Ter
XM_017009188.1:c.7849A>T	XP_016864677.1:p.Lys2617Ter
XM_024454388.1:c.12775A>T	XP_024310156.1:p.Lys4259Ter
XM_024454389.1:c.12364A>T	XP_024310157.1:p.Lys4122Ter
NM_001369.3:c.13762A>T MANE Select	NP_001360.1:p.Lys4588Ter