Canonical Allele Identifier: CA2672747786

Gene: AGA

Linked Data

• dbSNP Id: rs2111019460
• gnomAD v4: 4-177439487-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439487A>G , CM000666.2:g.177439487A>G	GRCh38
NC_000004.11:g.178360641A>G , CM000666.1:g.178360641A>G	GRCh37
NC_000004.10:g.178597635A>G	NCBI36
NG_011845.2:g.8017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+89T>C MANE Select	ENSP00000264595.2:n.394+89T>C
ENST00000264595.6:c.394+89T>C	ENSP00000264595.2:n.394+89T>C
ENST00000502310.5:c.49+89T>C	ENSP00000423798.1:n.49+89T>C
ENST00000506853.5:n.428+89T>C
ENST00000510635.1:c.90+89T>C
ENST00000510955.5:n.316-630T>C
NM_000027.3:c.394+89T>C	NP_000018.2:n.394+89T>C
NM_001171988.1:c.394+89T>C	NP_001165459.1:n.394+89T>C
NR_033655.1:n.522+89T>C
XM_006714123.2:c.394+89T>C	XP_006714186.1:n.394+89T>C
XR_001741155.2:n.488+89T>C
NM_000027.4:c.394+89T>C MANE Select	NP_000018.2:n.394+89T>C
NM_001171988.2:c.394+89T>C	NP_001165459.1:n.394+89T>C
NR_033655.2:n.456+89T>C