Canonical Allele Identifier: CA3146892

Gene: AGA

Linked Data

• ClinVar Variation Id: 1118434
• ClinVar RCV Id: RCV001447555
• dbSNP Id: rs748171793
• ExAC: 4:178358644 G / A
• gnomAD v2: 4-178358644-G-A
• gnomAD v3: 4-177437490-G-A
• gnomAD v4: 4-177437490-G-A
• MyVariant Identifiers: chr4:g.178358644G>A (hg19) ; chr4:g.177437490G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.537C>T MANE Select	ENSP00000264595.2:p.Cys179=
ENST00000264595.6:c.537C>T	ENSP00000264595.2:p.Cys179=
ENST00000502310.5:c.192C>T	ENSP00000423798.1:p.Cys64=
ENST00000506853.5:n.571C>T
ENST00000510635.1:c.233C>T
ENST00000510955.5:n.458C>T
NM_000027.3:c.537C>T	NP_000018.2:p.Cys179=
NM_001171988.1:c.537C>T	NP_001165459.1:p.Cys179=
NR_033655.1:n.665C>T
XM_006714123.2:c.537C>T	XP_006714186.1:p.Cys179=
XR_001741155.2:n.631C>T
NM_000027.4:c.537C>T MANE Select	NP_000018.2:p.Cys179=
NM_001171988.2:c.537C>T	NP_001165459.1:p.Cys179=
NR_033655.2:n.599C>T