Canonical Allele Identifier: CA3147057

Gene: AGA

Linked Data

• ClinVar Variation Id: 1129532
• ClinVar RCV Id: RCV001462738 ; RCV003956014
• dbSNP Id: rs146683705
• ExAC: 4:178363455 G / A
• gnomAD v2: 4-178363455-G-A
• gnomAD v3: 4-177442301-G-A
• gnomAD v4: 4-177442301-G-A
• MyVariant Identifiers: chr4:g.178363455G>A (hg19) ; chr4:g.177442301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442301G>A , CM000666.2:g.177442301G>A	GRCh38
NC_000004.11:g.178363455G>A , CM000666.1:g.178363455G>A	GRCh37
NC_000004.10:g.178600449G>A	NCBI36
NG_011845.2:g.5203C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.75C>T MANE Select	ENSP00000264595.2:p.Ser25=
ENST00000264595.6:c.75C>T	ENSP00000264595.2:p.Ser25=
ENST00000506853.5:n.109C>T
ENST00000510955.5:n.109C>T
ENST00000511231.1:n.109C>T
NM_000027.3:c.75C>T	NP_000018.2:p.Ser25=
NM_001171988.1:c.75C>T	NP_001165459.1:p.Ser25=
NR_033655.1:n.203C>T
XM_006714123.2:c.75C>T	XP_006714186.1:p.Ser25=
XR_001741155.2:n.169C>T
NM_000027.4:c.75C>T MANE Select	NP_000018.2:p.Ser25=
NM_001171988.2:c.75C>T	NP_001165459.1:p.Ser25=
NR_033655.2:n.137C>T