Canonical Allele Identifier: CA358783246

Gene: AGA

Linked Data

• dbSNP Id: rs1264111124
• gnomAD v3: 4-177438774-C-A
• gnomAD v4: 4-177438774-C-A
• MyVariant Identifiers: chr4:g.178359928C>A (hg19) ; chr4:g.177438774C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438774C>A , CM000666.2:g.177438774C>A	GRCh38
NC_000004.11:g.178359928C>A , CM000666.1:g.178359928C>A	GRCh37
NC_000004.10:g.178596922C>A	NCBI36
NG_011845.2:g.8730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.478G>T MANE Select	ENSP00000264595.2:p.Ala160Ser
ENST00000264595.6:c.478G>T	ENSP00000264595.2:p.Ala160Ser
ENST00000502310.5:c.133G>T	ENSP00000423798.1:p.Ala45Ser
ENST00000506853.5:n.512G>T
ENST00000510635.1:c.174G>T
ENST00000510955.5:n.399G>T
NM_000027.3:c.478G>T	NP_000018.2:p.Ala160Ser
NM_001171988.1:c.478G>T	NP_001165459.1:p.Ala160Ser
NR_033655.1:n.606G>T
XM_006714123.2:c.478G>T	XP_006714186.1:p.Ala160Ser
XR_001741155.2:n.572G>T
NM_000027.4:c.478G>T MANE Select	NP_000018.2:p.Ala160Ser
NM_001171988.2:c.478G>T	NP_001165459.1:p.Ala160Ser
NR_033655.2:n.540G>T