Canonical Allele Identifier: CA442333114

Gene: AGA

Linked Data

• ClinVar Variation Id: 1543239
• ClinVar RCV Id: RCV002169969
• dbSNP Id: rs1560952259
• gnomAD v4: 4-177442256-G-A
• MyVariant Identifiers: chr4:g.178363410G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442256G>A , CM000666.2:g.177442256G>A	GRCh38
NC_000004.11:g.178363410G>A , CM000666.1:g.178363410G>A	GRCh37
NC_000004.10:g.178600404G>A	NCBI36
NG_011845.2:g.5248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.120C>T MANE Select	ENSP00000264595.2:p.Thr40=
ENST00000264595.6:c.120C>T	ENSP00000264595.2:p.Thr40=
ENST00000506853.5:n.154C>T
ENST00000510955.5:n.154C>T
ENST00000511231.1:n.154C>T
NM_000027.3:c.120C>T	NP_000018.2:p.Thr40=
NM_001171988.1:c.120C>T	NP_001165459.1:p.Thr40=
NR_033655.1:n.248C>T
XM_006714123.2:c.120C>T	XP_006714186.1:p.Thr40=
XR_001741155.2:n.214C>T
NM_000027.4:c.120C>T MANE Select	NP_000018.2:p.Thr40=
NM_001171988.2:c.120C>T	NP_001165459.1:p.Thr40=
NR_033655.2:n.182C>T