Canonical Allele Identifier: CA442332795

Gene: AGA

Linked Data

• gnomAD v4: 4-177439601-T-G
• MyVariant Identifiers: chr4:g.178360755T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439601T>G , CM000666.2:g.177439601T>G	GRCh38
NC_000004.11:g.178360755T>G , CM000666.1:g.178360755T>G	GRCh37
NC_000004.10:g.178597749T>G	NCBI36
NG_011845.2:g.7903A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.369A>C MANE Select	ENSP00000264595.2:p.Thr123=
ENST00000264595.6:c.369A>C	ENSP00000264595.2:p.Thr123=
ENST00000502310.5:c.24A>C	ENSP00000423798.1:p.Thr8=
ENST00000506853.5:n.403A>C
ENST00000510635.1:c.65A>C
ENST00000510955.5:n.315+672A>C
NM_000027.3:c.369A>C	NP_000018.2:p.Thr123=
NM_001171988.1:c.369A>C	NP_001165459.1:p.Thr123=
NR_033655.1:n.497A>C
XM_006714123.2:c.369A>C	XP_006714186.1:p.Thr123=
XR_001741155.2:n.463A>C
NM_000027.4:c.369A>C MANE Select	NP_000018.2:p.Thr123=
NM_001171988.2:c.369A>C	NP_001165459.1:p.Thr123=
NR_033655.2:n.431A>C