Canonical Allele Identifier: CA358783708

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360794A>T (hg19) ; chr4:g.177439640A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439640A>T , CM000666.2:g.177439640A>T	GRCh38
NC_000004.11:g.178360794A>T , CM000666.1:g.178360794A>T	GRCh37
NC_000004.10:g.178597788A>T	NCBI36
NG_011845.2:g.7864T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.330T>A MANE Select	ENSP00000264595.2:p.Asn110Lys
ENST00000264595.6:c.330T>A	ENSP00000264595.2:p.Asn110Lys
ENST00000506853.5:n.364T>A
ENST00000510635.1:c.26T>A
ENST00000510955.5:n.315+633T>A
NM_000027.3:c.330T>A	NP_000018.2:p.Asn110Lys
NM_001171988.1:c.330T>A	NP_001165459.1:p.Asn110Lys
NR_033655.1:n.458T>A
XM_006714123.2:c.330T>A	XP_006714186.1:p.Asn110Lys
XR_001741155.2:n.424T>A
NM_000027.4:c.330T>A MANE Select	NP_000018.2:p.Asn110Lys
NM_001171988.2:c.330T>A	NP_001165459.1:p.Asn110Lys
NR_033655.2:n.392T>A