Canonical Allele Identifier: CA358785016

Gene: AGA

Linked Data

• gnomAD v4: 4-177442266-T-G
• MyVariant Identifiers: chr4:g.178363420T>G (hg19) ; chr4:g.177442266T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442266T>G , CM000666.2:g.177442266T>G	GRCh38
NC_000004.11:g.178363420T>G , CM000666.1:g.178363420T>G	GRCh37
NC_000004.10:g.178600414T>G	NCBI36
NG_011845.2:g.5238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.110A>C MANE Select	ENSP00000264595.2:p.Lys37Thr
ENST00000264595.6:c.110A>C	ENSP00000264595.2:p.Lys37Thr
ENST00000506853.5:n.144A>C
ENST00000510955.5:n.144A>C
ENST00000511231.1:n.144A>C
NM_000027.3:c.110A>C	NP_000018.2:p.Lys37Thr
NM_001171988.1:c.110A>C	NP_001165459.1:p.Lys37Thr
NR_033655.1:n.238A>C
XM_006714123.2:c.110A>C	XP_006714186.1:p.Lys37Thr
XR_001741155.2:n.204A>C
NM_000027.4:c.110A>C MANE Select	NP_000018.2:p.Lys37Thr
NM_001171988.2:c.110A>C	NP_001165459.1:p.Lys37Thr
NR_033655.2:n.172A>C