Canonical Allele Identifier: CA3146888
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 1434186
ClinVar RCV Id: RCV001962382
dbSNP Id: rs189159117

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437453T>C , CM000666.2:g.177437453T>C GRCh38
NC_000004.11:g.178358607T>C , CM000666.1:g.178358607T>C GRCh37
NC_000004.10:g.178595601T>C NCBI36
NG_011845.2:g.10051A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.574A>G MANE Select ENSP00000264595.2:p.Ile192Val
ENST00000264595.6:c.574A>G ENSP00000264595.2:p.Ile192Val
ENST00000502310.5:c.229A>G ENSP00000423798.1:p.Ile77Val
ENST00000506853.5:n.608A>G
ENST00000510635.1:c.270A>G
ENST00000510955.5:n.495A>G
NM_000027.3:c.574A>G NP_000018.2:p.Ile192Val
NM_001171988.1:c.574A>G NP_001165459.1:p.Ile192Val
NR_033655.1:n.702A>G
XM_006714123.2:c.574A>G XP_006714186.1:p.Ile192Val
XR_001741155.2:n.668A>G
NM_000027.4:c.574A>G MANE Select NP_000018.2:p.Ile192Val
NM_001171988.2:c.574A>G NP_001165459.1:p.Ile192Val
NR_033655.2:n.636A>G