Canonical Allele Identifier: CA3146880

Gene: AGA

Linked Data

• ClinVar Variation Id: 2199163
• ClinVar RCV Id: RCV002634168
• dbSNP Id: rs772248515
• ExAC: 4:178358561 A / G
• gnomAD v3: 4-177437407-A-G
• gnomAD v4: 4-177437407-A-G
• MyVariant Identifiers: chr4:g.178358561A>G (hg19) ; chr4:g.177437407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437407A>G , CM000666.2:g.177437407A>G	GRCh38
NC_000004.11:g.178358561A>G , CM000666.1:g.178358561A>G	GRCh37
NC_000004.10:g.178595555A>G	NCBI36
NG_011845.2:g.10097T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.620T>C MANE Select	ENSP00000264595.2:p.Ile207Thr
ENST00000264595.6:c.620T>C	ENSP00000264595.2:p.Ile207Thr
ENST00000502310.5:c.275T>C	ENSP00000423798.1:p.Ile92Thr
ENST00000506853.5:n.654T>C
ENST00000510635.1:c.316T>C
ENST00000510955.5:n.541T>C
NM_000027.3:c.620T>C	NP_000018.2:p.Ile207Thr
NM_001171988.1:c.620T>C	NP_001165459.1:p.Ile207Thr
NR_033655.1:n.748T>C
XM_006714123.2:c.620T>C	XP_006714186.1:p.Ile207Thr
XR_001741155.2:n.714T>C
NM_000027.4:c.620T>C MANE Select	NP_000018.2:p.Ile207Thr
NM_001171988.2:c.620T>C	NP_001165459.1:p.Ile207Thr
NR_033655.2:n.682T>C