Canonical Allele Identifier: CA358782720

Gene: AGA

Linked Data

• gnomAD v4: 4-177437450-G-A
• MyVariant Identifiers: chr4:g.178358604G>A (hg19) ; chr4:g.177437450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437450G>A , CM000666.2:g.177437450G>A	GRCh38
NC_000004.11:g.178358604G>A , CM000666.1:g.178358604G>A	GRCh37
NC_000004.10:g.178595598G>A	NCBI36
NG_011845.2:g.10054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.577C>T MANE Select	ENSP00000264595.2:p.Pro193Ser
ENST00000264595.6:c.577C>T	ENSP00000264595.2:p.Pro193Ser
ENST00000502310.5:c.232C>T	ENSP00000423798.1:p.Pro78Ser
ENST00000506853.5:n.611C>T
ENST00000510635.1:c.273C>T
ENST00000510955.5:n.498C>T
NM_000027.3:c.577C>T	NP_000018.2:p.Pro193Ser
NM_001171988.1:c.577C>T	NP_001165459.1:p.Pro193Ser
NR_033655.1:n.705C>T
XM_006714123.2:c.577C>T	XP_006714186.1:p.Pro193Ser
XR_001741155.2:n.671C>T
NM_000027.4:c.577C>T MANE Select	NP_000018.2:p.Pro193Ser
NM_001171988.2:c.577C>T	NP_001165459.1:p.Pro193Ser
NR_033655.2:n.639C>T