Canonical Allele Identifier: CA110790407

Gene: AGA

Linked Data

• dbSNP Id: rs960114190
• gnomAD v2: 4-178360927-T-G
• gnomAD v3: 4-177439773-T-G
• gnomAD v4: 4-177439773-T-G
• MyVariant Identifiers: chr4:g.178360927T>G (hg19) ; chr4:g.177439773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439773T>G , CM000666.2:g.177439773T>G	GRCh38
NC_000004.11:g.178360927T>G , CM000666.1:g.178360927T>G	GRCh37
NC_000004.10:g.178597921T>G	NCBI36
NG_011845.2:g.7731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-85A>C MANE Select	ENSP00000264595.2:n.282-85A>C
ENST00000264595.6:c.282-85A>C	ENSP00000264595.2:n.282-85A>C
ENST00000506853.5:n.316-85A>C
ENST00000510955.5:n.315+500A>C
NM_000027.3:c.282-85A>C	NP_000018.2:n.282-85A>C
NM_001171988.1:c.282-85A>C	NP_001165459.1:n.282-85A>C
NR_033655.1:n.410-85A>C
XM_006714123.2:c.282-85A>C	XP_006714186.1:n.282-85A>C
XR_001741155.2:n.376-85A>C
NM_000027.4:c.282-85A>C MANE Select	NP_000018.2:n.282-85A>C
NM_001171988.2:c.282-85A>C	NP_001165459.1:n.282-85A>C
NR_033655.2:n.344-85A>C