Canonical Allele Identifier: CA358782316

Gene: AGA

Linked Data

• gnomAD v4: 4-177434467-G-A
• MyVariant Identifiers: chr4:g.178355621G>A (hg19) ; chr4:g.177434467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434467G>A , CM000666.2:g.177434467G>A	GRCh38
NC_000004.11:g.178355621G>A , CM000666.1:g.178355621G>A	GRCh37
NC_000004.10:g.178592615G>A	NCBI36
NG_011845.2:g.13037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.721C>T MANE Select	ENSP00000264595.2:p.Pro241Ser
ENST00000264595.6:c.721C>T	ENSP00000264595.2:p.Pro241Ser
ENST00000502310.5:c.292C>T	ENSP00000423798.1:p.Pro98Ser
ENST00000506853.5:n.679C>T
ENST00000510635.1:c.387C>T
NM_000027.3:c.721C>T	NP_000018.2:p.Pro241Ser
NM_001171988.1:c.691C>T	NP_001165459.1:p.Pro231Ser
NR_033655.1:n.773C>T
XM_006714123.2:c.*15C>T	XP_006714186.1:n.*15C>T
XR_001741155.2:n.793C>T
NM_000027.4:c.721C>T MANE Select	NP_000018.2:p.Pro241Ser
NM_001171988.2:c.691C>T	NP_001165459.1:p.Pro231Ser
NR_033655.2:n.707C>T