Canonical Allele Identifier: CA358783250

Gene: AGA

Linked Data

• dbSNP Id: rs1226418187
• gnomAD v2: 4-178359931-G-A
• gnomAD v4: 4-177438777-G-A
• MyVariant Identifiers: chr4:g.178359931G>A (hg19) ; chr4:g.177438777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438777G>A , CM000666.2:g.177438777G>A	GRCh38
NC_000004.11:g.178359931G>A , CM000666.1:g.178359931G>A	GRCh37
NC_000004.10:g.178596925G>A	NCBI36
NG_011845.2:g.8727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.475C>T MANE Select	ENSP00000264595.2:p.Leu159Phe
ENST00000264595.6:c.475C>T	ENSP00000264595.2:p.Leu159Phe
ENST00000502310.5:c.130C>T	ENSP00000423798.1:p.Leu44Phe
ENST00000506853.5:n.509C>T
ENST00000510635.1:c.171C>T
ENST00000510955.5:n.396C>T
NM_000027.3:c.475C>T	NP_000018.2:p.Leu159Phe
NM_001171988.1:c.475C>T	NP_001165459.1:p.Leu159Phe
NR_033655.1:n.603C>T
XM_006714123.2:c.475C>T	XP_006714186.1:p.Leu159Phe
XR_001741155.2:n.569C>T
NM_000027.4:c.475C>T MANE Select	NP_000018.2:p.Leu159Phe
NM_001171988.2:c.475C>T	NP_001165459.1:p.Leu159Phe
NR_033655.2:n.537C>T