Canonical Allele Identifier: CA359212462

Gene: DNAH5

Linked Data

• dbSNP Id: rs2151862064
• gnomAD v3: 5-13841889-G-T
• gnomAD v4: 5-13841889-G-T
• MyVariant Identifiers: chr5:g.13841998G>T (hg19) ; chr5:g.13841889G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841889G>T , CM000667.2:g.13841889G>T	GRCh38
NC_000005.9:g.13841998G>T , CM000667.1:g.13841998G>T	GRCh37
NC_000005.8:g.13894998G>T	NCBI36
NG_013081.1:g.107592C>A
NG_013081.2:g.107592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5287C>A MANE Select	ENSP00000265104.4:p.Leu1763Met
ENST00000681290.1:c.5242C>A	ENSP00000505288.1:p.Leu1748Met
ENST00000265104.4:c.5287C>A	ENSP00000265104.4:p.Leu1763Met
NM_001369.2:c.5287C>A	NP_001360.1:p.Leu1763Met
XM_005248262.2:c.5242C>A	XP_005248319.1:p.Leu1748Met
XM_011513990.1:c.5287C>A	XP_011512292.1:p.Leu1763Met
XR_925598.1:n.5494C>A
XM_005248262.3:c.5395C>A	XP_005248319.2:p.Leu1799Met
XM_017009177.1:c.5395C>A	XP_016864666.1:p.Leu1799Met
XM_017009178.1:c.4300C>A	XP_016864667.1:p.Leu1434Met
XM_017009179.2:c.4300C>A	XP_016864668.1:p.Leu1434Met
XM_017009180.1:c.5395C>A	XP_016864669.1:p.Leu1799Met
XM_017009181.1:c.5395C>A	XP_016864670.1:p.Leu1799Met
XM_017009182.1:c.5395C>A	XP_016864671.1:p.Leu1799Met
XM_017009183.1:c.5395C>A	XP_016864672.1:p.Leu1799Met
XM_017009184.1:c.5395C>A	XP_016864673.1:p.Leu1799Met
XM_017009185.1:c.484C>A	XP_016864674.1:p.Leu162Met
XM_017009186.1:c.37C>A	XP_016864675.1:p.Leu13Met
XM_017009187.1:c.5395C>A	XP_016864676.1:p.Leu1799Met
XM_024454388.1:c.4300C>A	XP_024310156.1:p.Leu1434Met
XM_024454389.1:c.3889C>A	XP_024310157.1:p.Leu1297Met
XR_001742034.1:n.5412C>A
XR_001742035.1:n.5412C>A
NM_001369.3:c.5287C>A MANE Select	NP_001360.1:p.Leu1763Met