Canonical Allele Identifier: CA110789878

Gene: AGA

Linked Data

• dbSNP Id: rs575273988
• gnomAD v2: 4-178360217-A-T
• gnomAD v3: 4-177439063-A-T
• gnomAD v4: 4-177439063-A-T
• MyVariant Identifiers: chr4:g.178360217A>T (hg19) ; chr4:g.177439063A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439063A>T , CM000666.2:g.177439063A>T	GRCh38
NC_000004.11:g.178360217A>T , CM000666.1:g.178360217A>T	GRCh37
NC_000004.10:g.178597211A>T	NCBI36
NG_011845.2:g.8441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-206T>A MANE Select	ENSP00000264595.2:n.395-206T>A
ENST00000264595.6:c.395-206T>A	ENSP00000264595.2:n.395-206T>A
ENST00000502310.5:c.50-206T>A	ENSP00000423798.1:n.50-206T>A
ENST00000506853.5:n.429-206T>A
ENST00000510635.1:c.91-206T>A
ENST00000510955.5:n.316-206T>A
NM_000027.3:c.395-206T>A	NP_000018.2:n.395-206T>A
NM_001171988.1:c.395-206T>A	NP_001165459.1:n.395-206T>A
NR_033655.1:n.523-206T>A
XM_006714123.2:c.395-206T>A	XP_006714186.1:n.395-206T>A
XR_001741155.2:n.489-206T>A
NM_000027.4:c.395-206T>A MANE Select	NP_000018.2:n.395-206T>A
NM_001171988.2:c.395-206T>A	NP_001165459.1:n.395-206T>A
NR_033655.2:n.457-206T>A