Canonical Allele Identifier: CA442332666

Gene: AGA

Linked Data

• dbSNP Id: rs1482369849
• gnomAD v2: 4-178359956-A-C
• gnomAD v4: 4-177438802-A-C
• MyVariant Identifiers: chr4:g.178359956A>C (hg19) ; chr4:g.177438802A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438802A>C , CM000666.2:g.177438802A>C	GRCh38
NC_000004.11:g.178359956A>C , CM000666.1:g.178359956A>C	GRCh37
NC_000004.10:g.178596950A>C	NCBI36
NG_011845.2:g.8702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.450T>G MANE Select	ENSP00000264595.2:p.Ala150=
ENST00000264595.6:c.450T>G	ENSP00000264595.2:p.Ala150=
ENST00000502310.5:c.105T>G	ENSP00000423798.1:p.Ala35=
ENST00000506853.5:n.484T>G
ENST00000510635.1:c.146T>G
ENST00000510955.5:n.371T>G
NM_000027.3:c.450T>G	NP_000018.2:p.Ala150=
NM_001171988.1:c.450T>G	NP_001165459.1:p.Ala150=
NR_033655.1:n.578T>G
XM_006714123.2:c.450T>G	XP_006714186.1:p.Ala150=
XR_001741155.2:n.544T>G
NM_000027.4:c.450T>G MANE Select	NP_000018.2:p.Ala150=
NM_001171988.2:c.450T>G	NP_001165459.1:p.Ala150=
NR_033655.2:n.512T>G