Canonical Allele Identifier: CA358783252

Gene: AGA

Linked Data

• gnomAD v4: 4-177438777-G-T
• MyVariant Identifiers: chr4:g.178359931G>T (hg19) ; chr4:g.177438777G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.475C>A MANE Select	ENSP00000264595.2:p.Leu159Ile
ENST00000264595.6:c.475C>A	ENSP00000264595.2:p.Leu159Ile
ENST00000502310.5:c.130C>A	ENSP00000423798.1:p.Leu44Ile
ENST00000506853.5:n.509C>A
ENST00000510635.1:c.171C>A
ENST00000510955.5:n.396C>A
NM_000027.3:c.475C>A	NP_000018.2:p.Leu159Ile
NM_001171988.1:c.475C>A	NP_001165459.1:p.Leu159Ile
NR_033655.1:n.603C>A
XM_006714123.2:c.475C>A	XP_006714186.1:p.Leu159Ile
XR_001741155.2:n.569C>A
NM_000027.4:c.475C>A MANE Select	NP_000018.2:p.Leu159Ile
NM_001171988.2:c.475C>A	NP_001165459.1:p.Leu159Ile
NR_033655.2:n.537C>A