Canonical Allele Identifier: CA556484578

Gene: AGA

Linked Data

• dbSNP Id: rs1301398522
• gnomAD v2: 4-178360860-G-A
• gnomAD v4: 4-177439706-G-A
• MyVariant Identifiers: chr4:g.178360860G>A (hg19) ; chr4:g.177439706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439706G>A , CM000666.2:g.177439706G>A	GRCh38
NC_000004.11:g.178360860G>A , CM000666.1:g.178360860G>A	GRCh37
NC_000004.10:g.178597854G>A	NCBI36
NG_011845.2:g.7798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-18C>T MANE Select	ENSP00000264595.2:n.282-18C>T
ENST00000264595.6:c.282-18C>T	ENSP00000264595.2:n.282-18C>T
ENST00000506853.5:n.316-18C>T
ENST00000510955.5:n.315+567C>T
NM_000027.3:c.282-18C>T	NP_000018.2:n.282-18C>T
NM_001171988.1:c.282-18C>T	NP_001165459.1:n.282-18C>T
NR_033655.1:n.410-18C>T
XM_006714123.2:c.282-18C>T	XP_006714186.1:n.282-18C>T
XR_001741155.2:n.376-18C>T
NM_000027.4:c.282-18C>T MANE Select	NP_000018.2:n.282-18C>T
NM_001171988.2:c.282-18C>T	NP_001165459.1:n.282-18C>T
NR_033655.2:n.344-18C>T