Canonical Allele Identifier: CA3147090
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs764496267
ExAC: 4:178363532 C / T
gnomAD v2: 4-178363532-C-T
gnomAD v3: 4-177442378-C-T
gnomAD v4: 4-177442378-C-T
MyVariant Identifiers: chr4:g.178363532C>T (hg19) chr4:g.177442378C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442378C>T , CM000666.2:g.177442378C>T GRCh38
NC_000004.11:g.178363532C>T , CM000666.1:g.178363532C>T GRCh37
NC_000004.10:g.178600526C>T NCBI36
NG_011845.2:g.5126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.-3G>A MANE Select ENSP00000264595.2:n.-3G>A
ENST00000264595.6:c.-3G>A ENSP00000264595.2:n.-3G>A
ENST00000506853.5:n.32G>A
ENST00000510955.5:n.32G>A
ENST00000511231.1:n.32G>A
NM_000027.3:c.-3G>A NP_000018.2:n.-3G>A
NM_001171988.1:c.-3G>A NP_001165459.1:n.-3G>A
NR_033655.1:n.126G>A
XM_006714123.2:c.-3G>A XP_006714186.1:n.-3G>A
XR_001741155.2:n.92G>A
NM_000027.4:c.-3G>A MANE Select NP_000018.2:n.-3G>A
NM_001171988.2:c.-3G>A NP_001165459.1:n.-3G>A
NR_033655.2:n.60G>A
Search 100 bp 5'
Search 100 bp 3'