Canonical Allele Identifier: CA359191133

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753409A>G (hg19) ; chr5:g.13753300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753300A>G , CM000667.2:g.13753300A>G	GRCh38
NC_000005.9:g.13753409A>G , CM000667.1:g.13753409A>G	GRCh37
NC_000005.8:g.13806409A>G	NCBI36
NG_013081.1:g.196181T>C
NG_013081.2:g.196181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10805T>C MANE Select	ENSP00000265104.4:p.Leu3602Ser
ENST00000681290.1:c.10760T>C	ENSP00000505288.1:p.Leu3587Ser
ENST00000265104.4:c.10805T>C	ENSP00000265104.4:p.Leu3602Ser
NM_001369.2:c.10805T>C	NP_001360.1:p.Leu3602Ser
XM_005248262.2:c.10760T>C	XP_005248319.1:p.Leu3587Ser
XM_005248262.3:c.10913T>C	XP_005248319.2:p.Leu3638Ser
XM_017009177.1:c.10913T>C	XP_016864666.1:p.Leu3638Ser
XM_017009178.1:c.9818T>C	XP_016864667.1:p.Leu3273Ser
XM_017009179.2:c.9818T>C	XP_016864668.1:p.Leu3273Ser
XM_017009180.1:c.10913T>C	XP_016864669.1:p.Leu3638Ser
XM_017009181.1:c.10913T>C	XP_016864670.1:p.Leu3638Ser
XM_017009182.1:c.10913T>C	XP_016864671.1:p.Leu3638Ser
XM_017009185.1:c.6002T>C	XP_016864674.1:p.Leu2001Ser
XM_017009186.1:c.5555T>C	XP_016864675.1:p.Leu1852Ser
XM_017009188.1:c.4892T>C	XP_016864677.1:p.Leu1631Ser
XM_024454388.1:c.9818T>C	XP_024310156.1:p.Leu3273Ser
XM_024454389.1:c.9407T>C	XP_024310157.1:p.Leu3136Ser
NM_001369.3:c.10805T>C MANE Select	NP_001360.1:p.Leu3602Ser