Canonical Allele Identifier: CA110787412

Gene: AGA

Linked Data

• dbSNP Id: rs953192884
• gnomAD v3: 4-177434349-G-T
• gnomAD v4: 4-177434349-G-T
• MyVariant Identifiers: chr4:g.178355503G>T (hg19) ; chr4:g.177434349G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434349G>T , CM000666.2:g.177434349G>T	GRCh38
NC_000004.11:g.178355503G>T , CM000666.1:g.178355503G>T	GRCh37
NC_000004.10:g.178592497G>T	NCBI36
NG_011845.2:g.13155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+33C>A MANE Select	ENSP00000264595.2:n.806+33C>A
ENST00000264595.6:c.806+33C>A	ENSP00000264595.2:n.806+33C>A
ENST00000502310.5:c.377+33C>A	ENSP00000423798.1:n.377+33C>A
NM_000027.3:c.806+33C>A	NP_000018.2:n.806+33C>A
NM_001171988.1:c.776+33C>A	NP_001165459.1:n.776+33C>A
NR_033655.1:n.858+33C>A
XR_001741155.2:n.878+33C>A
NM_000027.4:c.806+33C>A MANE Select	NP_000018.2:n.806+33C>A
NM_001171988.2:c.776+33C>A	NP_001165459.1:n.776+33C>A
NR_033655.2:n.792+33C>A