Canonical Allele Identifier: CA110791036

Gene: AGA

Linked Data

• dbSNP Id: rs917507379
• gnomAD v3: 4-177440774-A-G
• gnomAD v4: 4-177440774-A-G
• MyVariant Identifiers: chr4:g.178361928A>G (hg19) ; chr4:g.177440774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440774A>G , CM000666.2:g.177440774A>G	GRCh38
NC_000004.11:g.178361928A>G , CM000666.1:g.178361928A>G	GRCh37
NC_000004.10:g.178598922A>G	NCBI36
NG_011845.2:g.6730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-348T>C MANE Select	ENSP00000264595.2:n.128-348T>C
ENST00000264595.6:c.128-348T>C	ENSP00000264595.2:n.128-348T>C
ENST00000506853.5:n.162-348T>C
ENST00000510955.5:n.162-348T>C
ENST00000511231.1:n.162-348T>C
NM_000027.3:c.128-348T>C	NP_000018.2:n.128-348T>C
NM_001171988.1:c.128-348T>C	NP_001165459.1:n.128-348T>C
NR_033655.1:n.256-348T>C
XM_006714123.2:c.128-348T>C	XP_006714186.1:n.128-348T>C
XR_001741155.2:n.222-348T>C
NM_000027.4:c.128-348T>C MANE Select	NP_000018.2:n.128-348T>C
NM_001171988.2:c.128-348T>C	NP_001165459.1:n.128-348T>C
NR_033655.2:n.190-348T>C