Canonical Allele Identifier: CA3146891

Gene: AGA

Linked Data

• dbSNP Id: rs754766505
• ExAC: 4:178358631 G / T
• gnomAD v2: 4-178358631-G-T
• gnomAD v4: 4-177437477-G-T
• MyVariant Identifiers: chr4:g.178358631G>T (hg19) ; chr4:g.177437477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437477G>T , CM000666.2:g.177437477G>T	GRCh38
NC_000004.11:g.178358631G>T , CM000666.1:g.178358631G>T	GRCh37
NC_000004.10:g.178595625G>T	NCBI36
NG_011845.2:g.10027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.550C>A MANE Select	ENSP00000264595.2:p.Pro184Thr
ENST00000264595.6:c.550C>A	ENSP00000264595.2:p.Pro184Thr
ENST00000502310.5:c.205C>A	ENSP00000423798.1:p.Pro69Thr
ENST00000506853.5:n.584C>A
ENST00000510635.1:c.246C>A
ENST00000510955.5:n.471C>A
NM_000027.3:c.550C>A	NP_000018.2:p.Pro184Thr
NM_001171988.1:c.550C>A	NP_001165459.1:p.Pro184Thr
NR_033655.1:n.678C>A
XM_006714123.2:c.550C>A	XP_006714186.1:p.Pro184Thr
XR_001741155.2:n.644C>A
NM_000027.4:c.550C>A MANE Select	NP_000018.2:p.Pro184Thr
NM_001171988.2:c.550C>A	NP_001165459.1:p.Pro184Thr
NR_033655.2:n.612C>A