Canonical Allele Identifier: CA791500349

Gene: AGA

Linked Data

• dbSNP Id: rs1269840725
• gnomAD v3: 4-177437639-A-G
• gnomAD v4: 4-177437639-A-G
• MyVariant Identifiers: chr4:g.178358793A>G (hg19) ; chr4:g.177437639A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437639A>G , CM000666.2:g.177437639A>G	GRCh38
NC_000004.11:g.178358793A>G , CM000666.1:g.178358793A>G	GRCh37
NC_000004.10:g.178595787A>G	NCBI36
NG_011845.2:g.9865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-120T>C MANE Select	ENSP00000264595.2:n.508-120T>C
ENST00000264595.6:c.508-120T>C	ENSP00000264595.2:n.508-120T>C
ENST00000502310.5:c.163-120T>C	ENSP00000423798.1:n.163-120T>C
ENST00000506853.5:n.542-120T>C
ENST00000510635.1:c.204-120T>C
ENST00000510955.5:n.429-120T>C
NM_000027.3:c.508-120T>C	NP_000018.2:n.508-120T>C
NM_001171988.1:c.508-120T>C	NP_001165459.1:n.508-120T>C
NR_033655.1:n.636-120T>C
XM_006714123.2:c.508-120T>C	XP_006714186.1:n.508-120T>C
XR_001741155.2:n.602-120T>C
NM_000027.4:c.508-120T>C MANE Select	NP_000018.2:n.508-120T>C
NM_001171988.2:c.508-120T>C	NP_001165459.1:n.508-120T>C
NR_033655.2:n.570-120T>C