Canonical Allele Identifier: CA110787639

Gene: AGA

Linked Data

• dbSNP Id: rs931873203
• gnomAD v2: 4-178355767-C-T
• gnomAD v3: 4-177434613-C-T
• gnomAD v4: 4-177434613-C-T
• MyVariant Identifiers: chr4:g.178355767C>T (hg19) ; chr4:g.177434613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434613C>T , CM000666.2:g.177434613C>T	GRCh38
NC_000004.11:g.178355767C>T , CM000666.1:g.178355767C>T	GRCh37
NC_000004.10:g.178592761C>T	NCBI36
NG_011845.2:g.12891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-124G>A MANE Select	ENSP00000264595.2:n.699-124G>A
ENST00000264595.6:c.699-124G>A	ENSP00000264595.2:n.699-124G>A
ENST00000502310.5:c.278-132G>A	ENSP00000423798.1:n.278-132G>A
ENST00000506853.5:n.657-124G>A
ENST00000510635.1:c.373-132G>A
NM_000027.3:c.699-124G>A	NP_000018.2:n.699-124G>A
NM_001171988.1:c.677-132G>A	NP_001165459.1:n.677-132G>A
NR_033655.1:n.751-124G>A
XM_006714123.2:c.677-124G>A	XP_006714186.1:n.677-124G>A
XR_001741155.2:n.771-124G>A
NM_000027.4:c.699-124G>A MANE Select	NP_000018.2:n.699-124G>A
NM_001171988.2:c.677-132G>A	NP_001165459.1:n.677-132G>A
NR_033655.2:n.685-124G>A