Canonical Allele Identifier: CA3146945
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 557564
ClinVar RCV Id: RCV000673721 RCV001092652
dbSNP Id: rs771563230
ExAC: 4:178360759 G / T
gnomAD v2: 4-178360759-G-T
gnomAD v4: 4-177439605-G-T
MyVariant Identifiers: chr4:g.178360759G>T (hg19) chr4:g.177439605G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439605G>T , CM000666.2:g.177439605G>T GRCh38
NC_000004.11:g.178360759G>T , CM000666.1:g.178360759G>T GRCh37
NC_000004.10:g.178597753G>T NCBI36
NG_011845.2:g.7899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.365C>A MANE Select ENSP00000264595.2:p.Thr122Lys
ENST00000264595.6:c.365C>A ENSP00000264595.2:p.Thr122Lys
ENST00000502310.5:c.20C>A ENSP00000423798.1:p.Thr7Lys
ENST00000506853.5:n.399C>A
ENST00000510635.1:c.61C>A
ENST00000510955.5:n.315+668C>A
NM_000027.3:c.365C>A NP_000018.2:p.Thr122Lys
NM_001171988.1:c.365C>A NP_001165459.1:p.Thr122Lys
NR_033655.1:n.493C>A
XM_006714123.2:c.365C>A XP_006714186.1:p.Thr122Lys
XR_001741155.2:n.459C>A
NM_000027.4:c.365C>A MANE Select NP_000018.2:p.Thr122Lys
NM_001171988.2:c.365C>A NP_001165459.1:p.Thr122Lys
NR_033655.2:n.427C>A
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