Canonical Allele Identifier: CA110790095

Gene: AGA

Linked Data

• dbSNP Id: rs527935685
• gnomAD v3: 4-177439372-A-T
• gnomAD v4: 4-177439372-A-T
• MyVariant Identifiers: chr4:g.178360526A>T (hg19) ; chr4:g.177439372A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439372A>T , CM000666.2:g.177439372A>T	GRCh38
NC_000004.11:g.178360526A>T , CM000666.1:g.178360526A>T	GRCh37
NC_000004.10:g.178597520A>T	NCBI36
NG_011845.2:g.8132T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+204T>A MANE Select	ENSP00000264595.2:n.394+204T>A
ENST00000264595.6:c.394+204T>A	ENSP00000264595.2:n.394+204T>A
ENST00000502310.5:c.49+204T>A	ENSP00000423798.1:n.49+204T>A
ENST00000506853.5:n.428+204T>A
ENST00000510635.1:c.90+204T>A
ENST00000510955.5:n.316-515T>A
NM_000027.3:c.394+204T>A	NP_000018.2:n.394+204T>A
NM_001171988.1:c.394+204T>A	NP_001165459.1:n.394+204T>A
NR_033655.1:n.522+204T>A
XM_006714123.2:c.394+204T>A	XP_006714186.1:n.394+204T>A
XR_001741155.2:n.488+204T>A
NM_000027.4:c.394+204T>A MANE Select	NP_000018.2:n.394+204T>A
NM_001171988.2:c.394+204T>A	NP_001165459.1:n.394+204T>A
NR_033655.2:n.456+204T>A