Canonical Allele Identifier: CA442332637

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178359911T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438757T>A , CM000666.2:g.177438757T>A	GRCh38
NC_000004.11:g.178359911T>A , CM000666.1:g.178359911T>A	GRCh37
NC_000004.10:g.178596905T>A	NCBI36
NG_011845.2:g.8747A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.495A>T MANE Select	ENSP00000264595.2:p.Pro165=
ENST00000264595.6:c.495A>T	ENSP00000264595.2:p.Pro165=
ENST00000502310.5:c.150A>T	ENSP00000423798.1:p.Pro50=
ENST00000506853.5:n.529A>T
ENST00000510635.1:c.191A>T
ENST00000510955.5:n.416A>T
NM_000027.3:c.495A>T	NP_000018.2:p.Pro165=
NM_001171988.1:c.495A>T	NP_001165459.1:p.Pro165=
NR_033655.1:n.623A>T
XM_006714123.2:c.495A>T	XP_006714186.1:p.Pro165=
XR_001741155.2:n.589A>T
NM_000027.4:c.495A>T MANE Select	NP_000018.2:p.Pro165=
NM_001171988.2:c.495A>T	NP_001165459.1:p.Pro165=
NR_033655.2:n.557A>T