Canonical Allele Identifier: CA3146830

Gene: AGA

Linked Data

• dbSNP Id: rs745635749
• ExAC: 4:178355671 C / T
• gnomAD v2: 4-178355671-C-T
• gnomAD v4: 4-177434517-C-T
• MyVariant Identifiers: chr4:g.178355671C>T (hg19) ; chr4:g.177434517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434517C>T , CM000666.2:g.177434517C>T	GRCh38
NC_000004.11:g.178355671C>T , CM000666.1:g.178355671C>T	GRCh37
NC_000004.10:g.178592665C>T	NCBI36
NG_011845.2:g.12987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-28G>A MANE Select	ENSP00000264595.2:n.699-28G>A
ENST00000264595.6:c.699-28G>A	ENSP00000264595.2:n.699-28G>A
ENST00000502310.5:c.278-36G>A	ENSP00000423798.1:n.278-36G>A
ENST00000506853.5:n.657-28G>A
ENST00000510635.1:c.373-36G>A
NM_000027.3:c.699-28G>A	NP_000018.2:n.699-28G>A
NM_001171988.1:c.677-36G>A	NP_001165459.1:n.677-36G>A
NR_033655.1:n.751-28G>A
XM_006714123.2:c.677-28G>A	XP_006714186.1:n.677-28G>A
XR_001741155.2:n.771-28G>A
NM_000027.4:c.699-28G>A MANE Select	NP_000018.2:n.699-28G>A
NM_001171988.2:c.677-36G>A	NP_001165459.1:n.677-36G>A
NR_033655.2:n.685-28G>A