Canonical Allele Identifier: CA352954316

Gene: HYAL3 NAA80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50297499C>T , CM000665.2:g.50297499C>T	GRCh38
NC_000003.11:g.50334930C>T , CM000665.1:g.50334930C>T	GRCh37
NC_000003.10:g.50309934C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001200016.2:c.-36G>A (NAA80) MANE Select	NP_001186945.1:n.-36G>A
NM_003549.4:c.-18+1714G>A (HYAL3) MANE Select	NP_003540.2:n.-18+1714G>A
ENST00000336307.6:c.-18+1714G>A (HYAL3) MANE Select	ENSP00000337425.1:n.-18+1714G>A
ENST00000443094.3:c.-36G>A (NAA80) MANE Select	ENSP00000410610.2:n.-36G>A
NM_001200016.1:c.-36G>A (NAA80)	NP_001186945.1:n.-36G>A
NM_001200018.1:c.-36G>A (NAA80)	NP_001186947.1:n.-36G>A
NM_001200018.2:c.-36G>A (NAA80)	NP_001186947.1:n.-36G>A
NM_001200029.1:c.-18+1322G>A (HYAL3)	NP_001186958.1:n.-18+1322G>A
NM_001200029.2:c.-18+1322G>A (HYAL3)	NP_001186958.1:n.-18+1322G>A
NM_001200030.1:c.-18+1714G>A (HYAL3)	NP_001186959.1:n.-18+1714G>A
NM_001200030.2:c.-18+1714G>A (HYAL3)	NP_001186959.1:n.-18+1714G>A
NM_001200031.1:c.2+1714G>A (HYAL3)	NP_001186960.1:n.2+1714G>A
NM_001200031.2:c.2+1714G>A (HYAL3)	NP_001186960.1:n.2+1714G>A
NM_001200032.1:c.2+1714G>A (HYAL3)	NP_001186961.1:n.2+1714G>A
NM_001200032.2:c.2+1714G>A (HYAL3)	NP_001186961.1:n.2+1714G>A
NM_003549.3:c.-18+1714G>A (HYAL3)	NP_003540.2:n.-18+1714G>A
NM_012191.3:c.31G>A (NAA80)	NP_036323.2:p.Ala11Thr
NM_012191.4:c.31G>A (NAA80)	NP_036323.2:p.Ala11Thr
ENST00000336307.5:c.-18+1714G>A (HYAL3)	ENSP00000337425.1:n.-18+1714G>A
ENST00000354862.4:c.31G>A (NAA80)	ENSP00000346927.4:p.Ala11Thr
ENST00000359051.7:c.-18+1322G>A (HYAL3)	ENSP00000351946.3:n.-18+1322G>A
ENST00000415204.5:c.2+1714G>A (HYAL3)	ENSP00000401092.1:n.2+1714G>A
ENST00000417393.1:c.-36G>A (NAA80)	ENSP00000391893.1:n.-36G>A
ENST00000442620.5:c.-36G>A (NAA80)	ENSP00000391158.1:n.-36G>A
ENST00000443094.2:c.-36G>A (NAA80)	ENSP00000410610.2:n.-36G>A
ENST00000443842.1:c.-36G>A (NAA80)	ENSP00000400559.1:n.-36G>A
ENST00000450489.1:c.-36G>A (NAA80)	ENSP00000388316.1:n.-36G>A
ENST00000450982.6:c.-18+1714G>A (HYAL3)	ENSP00000391922.1:n.-18+1714G>A
ENST00000452674.1:c.-36G>A (NAA80)	ENSP00000413623.1:n.-36G>A
ENST00000513170.1:c.2+1714G>A (HYAL3)	ENSP00000424633.1:n.2+1714G>A
ENST00000621157.5:c.-18+1322G>A (HYAL3)	ENSP00000479935.1:n.-18+1322G>A