Canonical Allele Identifier: CA556485060

Gene: AGA

Linked Data

• dbSNP Id: rs1472055694
• gnomAD v2: 4-178361632-T-C
• MyVariant Identifiers: chr4:g.178361632T>C (hg19) ; chr4:g.177440478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440478T>C , CM000666.2:g.177440478T>C	GRCh38
NC_000004.11:g.178361632T>C , CM000666.1:g.178361632T>C	GRCh37
NC_000004.10:g.178598626T>C	NCBI36
NG_011845.2:g.7026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-52A>G MANE Select	ENSP00000264595.2:n.128-52A>G
ENST00000264595.6:c.128-52A>G	ENSP00000264595.2:n.128-52A>G
ENST00000506853.5:n.162-52A>G
ENST00000510955.5:n.162-52A>G
ENST00000511231.1:n.162-52A>G
NM_000027.3:c.128-52A>G	NP_000018.2:n.128-52A>G
NM_001171988.1:c.128-52A>G	NP_001165459.1:n.128-52A>G
NR_033655.1:n.256-52A>G
XM_006714123.2:c.128-52A>G	XP_006714186.1:n.128-52A>G
XR_001741155.2:n.222-52A>G
NM_000027.4:c.128-52A>G MANE Select	NP_000018.2:n.128-52A>G
NM_001171988.2:c.128-52A>G	NP_001165459.1:n.128-52A>G
NR_033655.2:n.190-52A>G