Canonical Allele Identifier: CA110791746

Gene: AGA

Linked Data

• dbSNP Id: rs375737342
• gnomAD v4: 4-177442258-T-A
• MyVariant Identifiers: chr4:g.178363412T>A (hg19) ; chr4:g.177442258T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442258T>A , CM000666.2:g.177442258T>A	GRCh38
NC_000004.11:g.178363412T>A , CM000666.1:g.178363412T>A	GRCh37
NC_000004.10:g.178600406T>A	NCBI36
NG_011845.2:g.5246A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.118A>T MANE Select	ENSP00000264595.2:p.Thr40Ser
ENST00000264595.6:c.118A>T	ENSP00000264595.2:p.Thr40Ser
ENST00000506853.5:n.152A>T
ENST00000510955.5:n.152A>T
ENST00000511231.1:n.152A>T
NM_000027.3:c.118A>T	NP_000018.2:p.Thr40Ser
NM_001171988.1:c.118A>T	NP_001165459.1:p.Thr40Ser
NR_033655.1:n.246A>T
XM_006714123.2:c.118A>T	XP_006714186.1:p.Thr40Ser
XR_001741155.2:n.212A>T
NM_000027.4:c.118A>T MANE Select	NP_000018.2:p.Thr40Ser
NM_001171988.2:c.118A>T	NP_001165459.1:p.Thr40Ser
NR_033655.2:n.180A>T