Canonical Allele Identifier: CA556484149

Gene: AGA

Linked Data

• dbSNP Id: rs1466305763
• gnomAD v2: 4-178359870-T-A
• MyVariant Identifiers: chr4:g.178359870T>A (hg19) ; chr4:g.177438716T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438716T>A , CM000666.2:g.177438716T>A	GRCh38
NC_000004.11:g.178359870T>A , CM000666.1:g.178359870T>A	GRCh37
NC_000004.10:g.178596864T>A	NCBI36
NG_011845.2:g.8788A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+29A>T MANE Select	ENSP00000264595.2:n.507+29A>T
ENST00000264595.6:c.507+29A>T	ENSP00000264595.2:n.507+29A>T
ENST00000502310.5:c.162+29A>T	ENSP00000423798.1:n.162+29A>T
ENST00000506853.5:n.541+29A>T
ENST00000510635.1:c.203+29A>T
ENST00000510955.5:n.428+29A>T
NM_000027.3:c.507+29A>T	NP_000018.2:n.507+29A>T
NM_001171988.1:c.507+29A>T	NP_001165459.1:n.507+29A>T
NR_033655.1:n.635+29A>T
XM_006714123.2:c.507+29A>T	XP_006714186.1:n.507+29A>T
XR_001741155.2:n.601+29A>T
NM_000027.4:c.507+29A>T MANE Select	NP_000018.2:n.507+29A>T
NM_001171988.2:c.507+29A>T	NP_001165459.1:n.507+29A>T
NR_033655.2:n.569+29A>T