Canonical Allele Identifier: CA358782712

Gene: AGA

Linked Data

• dbSNP Id: rs1164015533
• MyVariant Identifiers: chr4:g.178358603G>A (hg19) ; chr4:g.177437449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437449G>A , CM000666.2:g.177437449G>A	GRCh38
NC_000004.11:g.178358603G>A , CM000666.1:g.178358603G>A	GRCh37
NC_000004.10:g.178595597G>A	NCBI36
NG_011845.2:g.10055C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.578C>T MANE Select	ENSP00000264595.2:p.Pro193Leu
ENST00000264595.6:c.578C>T	ENSP00000264595.2:p.Pro193Leu
ENST00000502310.5:c.233C>T	ENSP00000423798.1:p.Pro78Leu
ENST00000506853.5:n.612C>T
ENST00000510635.1:c.274C>T
ENST00000510955.5:n.499C>T
NM_000027.3:c.578C>T	NP_000018.2:p.Pro193Leu
NM_001171988.1:c.578C>T	NP_001165459.1:p.Pro193Leu
NR_033655.1:n.706C>T
XM_006714123.2:c.578C>T	XP_006714186.1:p.Pro193Leu
XR_001741155.2:n.672C>T
NM_000027.4:c.578C>T MANE Select	NP_000018.2:p.Pro193Leu
NM_001171988.2:c.578C>T	NP_001165459.1:p.Pro193Leu
NR_033655.2:n.640C>T