Canonical Allele Identifier: CA358785052

Gene: AGA

Linked Data

• gnomAD v4: 4-177442282-T-G
• MyVariant Identifiers: chr4:g.178363436T>G (hg19) ; chr4:g.177442282T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442282T>G , CM000666.2:g.177442282T>G	GRCh38
NC_000004.11:g.178363436T>G , CM000666.1:g.178363436T>G	GRCh37
NC_000004.10:g.178600430T>G	NCBI36
NG_011845.2:g.5222A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.94A>C MANE Select	ENSP00000264595.2:p.Asn32His
ENST00000264595.6:c.94A>C	ENSP00000264595.2:p.Asn32His
ENST00000506853.5:n.128A>C
ENST00000510955.5:n.128A>C
ENST00000511231.1:n.128A>C
NM_000027.3:c.94A>C	NP_000018.2:p.Asn32His
NM_001171988.1:c.94A>C	NP_001165459.1:p.Asn32His
NR_033655.1:n.222A>C
XM_006714123.2:c.94A>C	XP_006714186.1:p.Asn32His
XR_001741155.2:n.188A>C
NM_000027.4:c.94A>C MANE Select	NP_000018.2:p.Asn32His
NM_001171988.2:c.94A>C	NP_001165459.1:p.Asn32His
NR_033655.2:n.156A>C