Canonical Allele Identifier: CA358785177

Gene: AGA

Linked Data

• gnomAD v4: 4-177442354-G-A
• COSMIC: COSM1328598
• MyVariant Identifiers: chr4:g.178363508G>A (hg19) ; chr4:g.177442354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442354G>A , CM000666.2:g.177442354G>A	GRCh38
NC_000004.11:g.178363508G>A , CM000666.1:g.178363508G>A	GRCh37
NC_000004.10:g.178600502G>A	NCBI36
NG_011845.2:g.5150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.22C>T MANE Select	ENSP00000264595.2:p.Pro8Ser
ENST00000264595.6:c.22C>T	ENSP00000264595.2:p.Pro8Ser
ENST00000506853.5:n.56C>T
ENST00000510955.5:n.56C>T
ENST00000511231.1:n.56C>T
NM_000027.3:c.22C>T	NP_000018.2:p.Pro8Ser
NM_001171988.1:c.22C>T	NP_001165459.1:p.Pro8Ser
NR_033655.1:n.150C>T
XM_006714123.2:c.22C>T	XP_006714186.1:p.Pro8Ser
XR_001741155.2:n.116C>T
NM_000027.4:c.22C>T MANE Select	NP_000018.2:p.Pro8Ser
NM_001171988.2:c.22C>T	NP_001165459.1:p.Pro8Ser
NR_033655.2:n.84C>T