Canonical Allele Identifier: CA2578238591

Gene: AGA

Linked Data

• gnomAD v4: 4-177442243-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442243C>T , CM000666.2:g.177442243C>T	GRCh38
NC_000004.11:g.178363397C>T , CM000666.1:g.178363397C>T	GRCh37
NC_000004.10:g.178600391C>T	NCBI36
NG_011845.2:g.5261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+6G>A MANE Select	ENSP00000264595.2:n.127+6G>A
ENST00000264595.6:c.127+6G>A	ENSP00000264595.2:n.127+6G>A
ENST00000506853.5:n.161+6G>A
ENST00000510955.5:n.161+6G>A
ENST00000511231.1:n.161+6G>A
NM_000027.3:c.127+6G>A	NP_000018.2:n.127+6G>A
NM_001171988.1:c.127+6G>A	NP_001165459.1:n.127+6G>A
NR_033655.1:n.255+6G>A
XM_006714123.2:c.127+6G>A	XP_006714186.1:n.127+6G>A
XR_001741155.2:n.221+6G>A
NM_000027.4:c.127+6G>A MANE Select	NP_000018.2:n.127+6G>A
NM_001171988.2:c.127+6G>A	NP_001165459.1:n.127+6G>A
NR_033655.2:n.189+6G>A