Canonical Allele Identifier: CA2578238490

Gene: AGA

Linked Data

• gnomAD v4: 4-177437599-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437599A>G , CM000666.2:g.177437599A>G	GRCh38
NC_000004.11:g.178358753A>G , CM000666.1:g.178358753A>G	GRCh37
NC_000004.10:g.178595747A>G	NCBI36
NG_011845.2:g.9905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-80T>C MANE Select	ENSP00000264595.2:n.508-80T>C
ENST00000264595.6:c.508-80T>C	ENSP00000264595.2:n.508-80T>C
ENST00000502310.5:c.163-80T>C	ENSP00000423798.1:n.163-80T>C
ENST00000506853.5:n.542-80T>C
ENST00000510635.1:c.204-80T>C
ENST00000510955.5:n.429-80T>C
NM_000027.3:c.508-80T>C	NP_000018.2:n.508-80T>C
NM_001171988.1:c.508-80T>C	NP_001165459.1:n.508-80T>C
NR_033655.1:n.636-80T>C
XM_006714123.2:c.508-80T>C	XP_006714186.1:n.508-80T>C
XR_001741155.2:n.602-80T>C
NM_000027.4:c.508-80T>C MANE Select	NP_000018.2:n.508-80T>C
NM_001171988.2:c.508-80T>C	NP_001165459.1:n.508-80T>C
NR_033655.2:n.570-80T>C