Canonical Allele Identifier: CA358781921

Gene: AGA

Linked Data

• dbSNP Id: rs1435464381
• gnomAD v2: 4-178355536-C-T
• MyVariant Identifiers: chr4:g.178355536C>T (hg19) ; chr4:g.177434382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434382C>T , CM000666.2:g.177434382C>T	GRCh38
NC_000004.11:g.178355536C>T , CM000666.1:g.178355536C>T	GRCh37
NC_000004.10:g.178592530C>T	NCBI36
NG_011845.2:g.13122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806G>A MANE Select	ENSP00000264595.2:p.Ser269Asn
ENST00000264595.6:c.806G>A	ENSP00000264595.2:p.Ser269Asn
ENST00000502310.5:c.377G>A	ENSP00000423798.1:p.Ser126Asn
NM_000027.3:c.806G>A	NP_000018.2:p.Ser269Asn
NM_001171988.1:c.776G>A	NP_001165459.1:p.Ser259Asn
NR_033655.1:n.858G>A
XR_001741155.2:n.878G>A
NM_000027.4:c.806G>A MANE Select	NP_000018.2:p.Ser269Asn
NM_001171988.2:c.776G>A	NP_001165459.1:p.Ser259Asn
NR_033655.2:n.792G>A