Canonical Allele Identifier: CA791497813

Gene: AGA

Linked Data

• dbSNP Id: rs1313626571
• gnomAD v4: 4-177434533-A-G
• MyVariant Identifiers: chr4:g.178355687A>G (hg19) ; chr4:g.177434533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434533A>G , CM000666.2:g.177434533A>G	GRCh38
NC_000004.11:g.178355687A>G , CM000666.1:g.178355687A>G	GRCh37
NC_000004.10:g.178592681A>G	NCBI36
NG_011845.2:g.12971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-44T>C MANE Select	ENSP00000264595.2:n.699-44T>C
ENST00000264595.6:c.699-44T>C	ENSP00000264595.2:n.699-44T>C
ENST00000502310.5:c.278-52T>C	ENSP00000423798.1:n.278-52T>C
ENST00000506853.5:n.657-44T>C
ENST00000510635.1:c.373-52T>C
NM_000027.3:c.699-44T>C	NP_000018.2:n.699-44T>C
NM_001171988.1:c.677-52T>C	NP_001165459.1:n.677-52T>C
NR_033655.1:n.751-44T>C
XM_006714123.2:c.677-44T>C	XP_006714186.1:n.677-44T>C
XR_001741155.2:n.771-44T>C
NM_000027.4:c.699-44T>C MANE Select	NP_000018.2:n.699-44T>C
NM_001171988.2:c.677-52T>C	NP_001165459.1:n.677-52T>C
NR_033655.2:n.685-44T>C