Canonical Allele Identifier: CA556482848

Gene: AGA

Linked Data

• dbSNP Id: rs758650260
• gnomAD v2: 4-178355525-A-G
• gnomAD v4: 4-177434371-A-G
• MyVariant Identifiers: chr4:g.178355525A>G (hg19) ; chr4:g.177434371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434371A>G , CM000666.2:g.177434371A>G	GRCh38
NC_000004.11:g.178355525A>G , CM000666.1:g.178355525A>G	GRCh37
NC_000004.10:g.178592519A>G	NCBI36
NG_011845.2:g.13133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+11T>C MANE Select	ENSP00000264595.2:n.806+11T>C
ENST00000264595.6:c.806+11T>C	ENSP00000264595.2:n.806+11T>C
ENST00000502310.5:c.377+11T>C	ENSP00000423798.1:n.377+11T>C
NM_000027.3:c.806+11T>C	NP_000018.2:n.806+11T>C
NM_001171988.1:c.776+11T>C	NP_001165459.1:n.776+11T>C
NR_033655.1:n.858+11T>C
XR_001741155.2:n.878+11T>C
NM_000027.4:c.806+11T>C MANE Select	NP_000018.2:n.806+11T>C
NM_001171988.2:c.776+11T>C	NP_001165459.1:n.776+11T>C
NR_033655.2:n.792+11T>C