Canonical Allele Identifier: CA358783303

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178359954G>T (hg19) ; chr4:g.177438800G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438800G>T , CM000666.2:g.177438800G>T	GRCh38
NC_000004.11:g.178359954G>T , CM000666.1:g.178359954G>T	GRCh37
NC_000004.10:g.178596948G>T	NCBI36
NG_011845.2:g.8704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.452C>A MANE Select	ENSP00000264595.2:p.Ser151Tyr
ENST00000264595.6:c.452C>A	ENSP00000264595.2:p.Ser151Tyr
ENST00000502310.5:c.107C>A	ENSP00000423798.1:p.Ser36Tyr
ENST00000506853.5:n.486C>A
ENST00000510635.1:c.148C>A
ENST00000510955.5:n.373C>A
NM_000027.3:c.452C>A	NP_000018.2:p.Ser151Tyr
NM_001171988.1:c.452C>A	NP_001165459.1:p.Ser151Tyr
NR_033655.1:n.580C>A
XM_006714123.2:c.452C>A	XP_006714186.1:p.Ser151Tyr
XR_001741155.2:n.546C>A
NM_000027.4:c.452C>A MANE Select	NP_000018.2:p.Ser151Tyr
NM_001171988.2:c.452C>A	NP_001165459.1:p.Ser151Tyr
NR_033655.2:n.514C>A