Canonical Allele Identifier: CA442332623

Gene: AGA

Linked Data

• ClinVar Variation Id: 1666801
• ClinVar RCV Id: RCV002186490
• dbSNP Id: rs1736864324
• MyVariant Identifiers: chr4:g.178358671A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437517A>G , CM000666.2:g.177437517A>G	GRCh38
NC_000004.11:g.178358671A>G , CM000666.1:g.178358671A>G	GRCh37
NC_000004.10:g.178595665A>G	NCBI36
NG_011845.2:g.9987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.510T>C MANE Select	ENSP00000264595.2:p.Asn170=
ENST00000264595.6:c.510T>C	ENSP00000264595.2:p.Asn170=
ENST00000502310.5:c.165T>C	ENSP00000423798.1:p.Asn55=
ENST00000506853.5:n.544T>C
ENST00000510635.1:c.206T>C
ENST00000510955.5:n.431T>C
NM_000027.3:c.510T>C	NP_000018.2:p.Asn170=
NM_001171988.1:c.510T>C	NP_001165459.1:p.Asn170=
NR_033655.1:n.638T>C
XM_006714123.2:c.510T>C	XP_006714186.1:p.Asn170=
XR_001741155.2:n.604T>C
NM_000027.4:c.510T>C MANE Select	NP_000018.2:p.Asn170=
NM_001171988.2:c.510T>C	NP_001165459.1:p.Asn170=
NR_033655.2:n.572T>C