Canonical Allele Identifier: CA16040932

Gene: AGA

Linked Data

• ClinVar Variation Id: 370606
• ClinVar RCV Id: RCV000410452
• dbSNP Id: rs748171793
• gnomAD v2: 4-178358644-G-T
• gnomAD v3: 4-177437490-G-T
• gnomAD v4: 4-177437490-G-T
• MyVariant Identifiers: chr4:g.178358644G>T (hg19) ; chr4:g.177437490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437490G>T , CM000666.2:g.177437490G>T	GRCh38
NC_000004.11:g.178358644G>T , CM000666.1:g.178358644G>T	GRCh37
NC_000004.10:g.178595638G>T	NCBI36
NG_011845.2:g.10014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.537C>A MANE Select	ENSP00000264595.2:p.Cys179Ter
ENST00000264595.6:c.537C>A	ENSP00000264595.2:p.Cys179Ter
ENST00000502310.5:c.192C>A	ENSP00000423798.1:p.Cys64Ter
ENST00000506853.5:n.571C>A
ENST00000510635.1:c.233C>A
ENST00000510955.5:n.458C>A
NM_000027.3:c.537C>A	NP_000018.2:p.Cys179Ter
NM_001171988.1:c.537C>A	NP_001165459.1:p.Cys179Ter
NR_033655.1:n.665C>A
XM_006714123.2:c.537C>A	XP_006714186.1:p.Cys179Ter
XR_001741155.2:n.631C>A
NM_000027.4:c.537C>A MANE Select	NP_000018.2:p.Cys179Ter
NM_001171988.2:c.537C>A	NP_001165459.1:p.Cys179Ter
NR_033655.2:n.599C>A