Canonical Allele Identifier: CA358782361

Gene: AGA

Linked Data

• gnomAD v4: 4-177434488-G-T
• MyVariant Identifiers: chr4:g.178355642G>T (hg19) ; chr4:g.177434488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434488G>T , CM000666.2:g.177434488G>T	GRCh38
NC_000004.11:g.178355642G>T , CM000666.1:g.178355642G>T	GRCh37
NC_000004.10:g.178592636G>T	NCBI36
NG_011845.2:g.13016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.700C>A MANE Select	ENSP00000264595.2:p.Arg234Ser
ENST00000264595.6:c.700C>A	ENSP00000264595.2:p.Arg234Ser
ENST00000502310.5:c.278-7C>A	ENSP00000423798.1:n.278-7C>A
ENST00000506853.5:n.658C>A
ENST00000510635.1:c.373-7C>A
NM_000027.3:c.700C>A	NP_000018.2:p.Arg234Ser
NM_001171988.1:c.677-7C>A	NP_001165459.1:n.677-7C>A
NR_033655.1:n.752C>A
XM_006714123.2:c.678C>A	XP_006714186.1:p.Ala226=
XR_001741155.2:n.772C>A
NM_000027.4:c.700C>A MANE Select	NP_000018.2:p.Arg234Ser
NM_001171988.2:c.677-7C>A	NP_001165459.1:n.677-7C>A
NR_033655.2:n.686C>A