Canonical Allele Identifier: CA110791569

Gene: AGA

Linked Data

• dbSNP Id: rs970969927
• gnomAD v2: 4-178363257-G-A
• gnomAD v3: 4-177442103-G-A
• gnomAD v4: 4-177442103-G-A
• MyVariant Identifiers: chr4:g.178363257G>A (hg19) ; chr4:g.177442103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442103G>A , CM000666.2:g.177442103G>A	GRCh38
NC_000004.11:g.178363257G>A , CM000666.1:g.178363257G>A	GRCh37
NC_000004.10:g.178600251G>A	NCBI36
NG_011845.2:g.5401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+146C>T MANE Select	ENSP00000264595.2:n.127+146C>T
ENST00000264595.6:c.127+146C>T	ENSP00000264595.2:n.127+146C>T
ENST00000506853.5:n.161+146C>T
ENST00000510955.5:n.161+146C>T
ENST00000511231.1:n.161+146C>T
NM_000027.3:c.127+146C>T	NP_000018.2:n.127+146C>T
NM_001171988.1:c.127+146C>T	NP_001165459.1:n.127+146C>T
NR_033655.1:n.255+146C>T
XM_006714123.2:c.127+146C>T	XP_006714186.1:n.127+146C>T
XR_001741155.2:n.221+146C>T
NM_000027.4:c.127+146C>T MANE Select	NP_000018.2:n.127+146C>T
NM_001171988.2:c.127+146C>T	NP_001165459.1:n.127+146C>T
NR_033655.2:n.189+146C>T