Canonical Allele Identifier: CA442332798

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360758T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439604T>G , CM000666.2:g.177439604T>G	GRCh38
NC_000004.11:g.178360758T>G , CM000666.1:g.178360758T>G	GRCh37
NC_000004.10:g.178597752T>G	NCBI36
NG_011845.2:g.7900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.366A>C MANE Select	ENSP00000264595.2:p.Thr122=
ENST00000264595.6:c.366A>C	ENSP00000264595.2:p.Thr122=
ENST00000502310.5:c.21A>C	ENSP00000423798.1:p.Thr7=
ENST00000506853.5:n.400A>C
ENST00000510635.1:c.62A>C
ENST00000510955.5:n.315+669A>C
NM_000027.3:c.366A>C	NP_000018.2:p.Thr122=
NM_001171988.1:c.366A>C	NP_001165459.1:p.Thr122=
NR_033655.1:n.494A>C
XM_006714123.2:c.366A>C	XP_006714186.1:p.Thr122=
XR_001741155.2:n.460A>C
NM_000027.4:c.366A>C MANE Select	NP_000018.2:p.Thr122=
NM_001171988.2:c.366A>C	NP_001165459.1:p.Thr122=
NR_033655.2:n.428A>C