Canonical Allele Identifier: CA442333168

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363458G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442304G>T , CM000666.2:g.177442304G>T	GRCh38
NC_000004.11:g.178363458G>T , CM000666.1:g.178363458G>T	GRCh37
NC_000004.10:g.178600452G>T	NCBI36
NG_011845.2:g.5200C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.72C>A MANE Select	ENSP00000264595.2:p.Ser24=
ENST00000264595.6:c.72C>A	ENSP00000264595.2:p.Ser24=
ENST00000506853.5:n.106C>A
ENST00000510955.5:n.106C>A
ENST00000511231.1:n.106C>A
NM_000027.3:c.72C>A	NP_000018.2:p.Ser24=
NM_001171988.1:c.72C>A	NP_001165459.1:p.Ser24=
NR_033655.1:n.200C>A
XM_006714123.2:c.72C>A	XP_006714186.1:p.Ser24=
XR_001741155.2:n.166C>A
NM_000027.4:c.72C>A MANE Select	NP_000018.2:p.Ser24=
NM_001171988.2:c.72C>A	NP_001165459.1:p.Ser24=
NR_033655.2:n.134C>A