Canonical Allele Identifier: CA359199952

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829673C>G (hg19) ; chr5:g.13829564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829564C>G , CM000667.2:g.13829564C>G	GRCh38
NC_000005.9:g.13829673C>G , CM000667.1:g.13829673C>G	GRCh37
NC_000005.8:g.13882673C>G	NCBI36
NG_013081.1:g.119917G>C
NG_013081.2:g.119917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1321G>C
ENST00000265104.5:c.6390G>C MANE Select	ENSP00000265104.4:p.Leu2130Phe
ENST00000681290.1:c.6345G>C	ENSP00000505288.1:p.Leu2115Phe
ENST00000265104.4:c.6390G>C	ENSP00000265104.4:p.Leu2130Phe
NM_001369.2:c.6390G>C	NP_001360.1:p.Leu2130Phe
XM_005248262.2:c.6345G>C	XP_005248319.1:p.Leu2115Phe
XM_011513990.1:c.6390G>C	XP_011512292.1:p.Leu2130Phe
XR_925598.1:n.6597G>C
XM_005248262.3:c.6498G>C	XP_005248319.2:p.Leu2166Phe
XM_017009177.1:c.6498G>C	XP_016864666.1:p.Leu2166Phe
XM_017009178.1:c.5403G>C	XP_016864667.1:p.Leu1801Phe
XM_017009179.2:c.5403G>C	XP_016864668.1:p.Leu1801Phe
XM_017009180.1:c.6498G>C	XP_016864669.1:p.Leu2166Phe
XM_017009181.1:c.6498G>C	XP_016864670.1:p.Leu2166Phe
XM_017009182.1:c.6498G>C	XP_016864671.1:p.Leu2166Phe
XM_017009183.1:c.6498G>C	XP_016864672.1:p.Leu2166Phe
XM_017009184.1:c.6498G>C	XP_016864673.1:p.Leu2166Phe
XM_017009185.1:c.1587G>C	XP_016864674.1:p.Leu529Phe
XM_017009186.1:c.1140G>C	XP_016864675.1:p.Leu380Phe
XM_017009187.1:c.6498G>C	XP_016864676.1:p.Leu2166Phe
XM_017009188.1:c.477G>C	XP_016864677.1:p.Leu159Phe
XM_024454388.1:c.5403G>C	XP_024310156.1:p.Leu1801Phe
XM_024454389.1:c.4992G>C	XP_024310157.1:p.Leu1664Phe
XR_001742034.1:n.6515G>C
XR_001742035.1:n.6515G>C
NM_001369.3:c.6390G>C MANE Select	NP_001360.1:p.Leu2130Phe