Canonical Allele Identifier: CA791500342

Gene: AGA

Linked Data

• dbSNP Id: rs1432714261
• gnomAD v4: 4-177437630-A-G
• MyVariant Identifiers: chr4:g.178358784A>G (hg19) ; chr4:g.177437630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437630A>G , CM000666.2:g.177437630A>G	GRCh38
NC_000004.11:g.178358784A>G , CM000666.1:g.178358784A>G	GRCh37
NC_000004.10:g.178595778A>G	NCBI36
NG_011845.2:g.9874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-111T>C MANE Select	ENSP00000264595.2:n.508-111T>C
ENST00000264595.6:c.508-111T>C	ENSP00000264595.2:n.508-111T>C
ENST00000502310.5:c.163-111T>C	ENSP00000423798.1:n.163-111T>C
ENST00000506853.5:n.542-111T>C
ENST00000510635.1:c.204-111T>C
ENST00000510955.5:n.429-111T>C
NM_000027.3:c.508-111T>C	NP_000018.2:n.508-111T>C
NM_001171988.1:c.508-111T>C	NP_001165459.1:n.508-111T>C
NR_033655.1:n.636-111T>C
XM_006714123.2:c.508-111T>C	XP_006714186.1:n.508-111T>C
XR_001741155.2:n.602-111T>C
NM_000027.4:c.508-111T>C MANE Select	NP_000018.2:n.508-111T>C
NM_001171988.2:c.508-111T>C	NP_001165459.1:n.508-111T>C
NR_033655.2:n.570-111T>C