Canonical Allele Identifier: CA358785120

Gene: AGA

Linked Data

• ClinVar Variation Id: 1703080
• ClinVar RCV Id: RCV002280034
• dbSNP Id: rs1454861916
• gnomAD v3: 4-177442321-C-T
• gnomAD v4: 4-177442321-C-T
• MyVariant Identifiers: chr4:g.178363475C>T (hg19) ; chr4:g.177442321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442321C>T , CM000666.2:g.177442321C>T	GRCh38
NC_000004.11:g.178363475C>T , CM000666.1:g.178363475C>T	GRCh37
NC_000004.10:g.178600469C>T	NCBI36
NG_011845.2:g.5183G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.55G>A MANE Select	ENSP00000264595.2:p.Ala19Thr
ENST00000264595.6:c.55G>A	ENSP00000264595.2:p.Ala19Thr
ENST00000506853.5:n.89G>A
ENST00000510955.5:n.89G>A
ENST00000511231.1:n.89G>A
NM_000027.3:c.55G>A	NP_000018.2:p.Ala19Thr
NM_001171988.1:c.55G>A	NP_001165459.1:p.Ala19Thr
NR_033655.1:n.183G>A
XM_006714123.2:c.55G>A	XP_006714186.1:p.Ala19Thr
XR_001741155.2:n.149G>A
NM_000027.4:c.55G>A MANE Select	NP_000018.2:p.Ala19Thr
NM_001171988.2:c.55G>A	NP_001165459.1:p.Ala19Thr
NR_033655.2:n.117G>A