Canonical Allele Identifier: CA358782917

Gene: AGA

Linked Data

• dbSNP Id: rs1246288445
• gnomAD v2: 4-178358648-T-A
• gnomAD v3: 4-177437494-T-A
• gnomAD v4: 4-177437494-T-A
• MyVariant Identifiers: chr4:g.178358648T>A (hg19) ; chr4:g.177437494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437494T>A , CM000666.2:g.177437494T>A	GRCh38
NC_000004.11:g.178358648T>A , CM000666.1:g.178358648T>A	GRCh37
NC_000004.10:g.178595642T>A	NCBI36
NG_011845.2:g.10010A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.533A>T MANE Select	ENSP00000264595.2:p.Tyr178Phe
ENST00000264595.6:c.533A>T	ENSP00000264595.2:p.Tyr178Phe
ENST00000502310.5:c.188A>T	ENSP00000423798.1:p.Tyr63Phe
ENST00000506853.5:n.567A>T
ENST00000510635.1:c.229A>T
ENST00000510955.5:n.454A>T
NM_000027.3:c.533A>T	NP_000018.2:p.Tyr178Phe
NM_001171988.1:c.533A>T	NP_001165459.1:p.Tyr178Phe
NR_033655.1:n.661A>T
XM_006714123.2:c.533A>T	XP_006714186.1:p.Tyr178Phe
XR_001741155.2:n.627A>T
NM_000027.4:c.533A>T MANE Select	NP_000018.2:p.Tyr178Phe
NM_001171988.2:c.533A>T	NP_001165459.1:p.Tyr178Phe
NR_033655.2:n.595A>T