Canonical Allele Identifier: CA3146822
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 1153814
ClinVar RCV Id: RCV001495587
dbSNP Id: rs150175428
ExAC: 4:178355637 T / C
gnomAD v2: 4-178355637-T-C
gnomAD v3: 4-177434483-T-C
gnomAD v4: 4-177434483-T-C
MyVariant Identifiers: chr4:g.178355637T>C (hg19) chr4:g.177434483T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434483T>C , CM000666.2:g.177434483T>C GRCh38
NC_000004.11:g.178355637T>C , CM000666.1:g.178355637T>C GRCh37
NC_000004.10:g.178592631T>C NCBI36
NG_011845.2:g.13021A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.705A>G MANE Select ENSP00000264595.2:p.Val235=
ENST00000264595.6:c.705A>G ENSP00000264595.2:p.Val235=
ENST00000502310.5:c.278-2A>G ENSP00000423798.1:n.278-2A>G
ENST00000506853.5:n.663A>G
ENST00000510635.1:c.373-2A>G
NM_000027.3:c.705A>G NP_000018.2:p.Val235=
NM_001171988.1:c.677-2A>G NP_001165459.1:n.677-2A>G
NR_033655.1:n.757A>G
XM_006714123.2:c.683A>G XP_006714186.1:p.Ter228Trp
XR_001741155.2:n.777A>G
NM_000027.4:c.705A>G MANE Select NP_000018.2:p.Val235=
NM_001171988.2:c.677-2A>G NP_001165459.1:n.677-2A>G
NR_033655.2:n.691A>G
Search 100 bp 5'
Search 100 bp 3'