Canonical Allele Identifier: CA3146870

Gene: AGA

Linked Data

• dbSNP Id: rs371603692
• ExAC: 4:178358510 G / A
• gnomAD v2: 4-178358510-G-A
• gnomAD v3: 4-177437356-G-A
• gnomAD v4: 4-177437356-G-A
• MyVariant Identifiers: chr4:g.178358510G>A (hg19) ; chr4:g.177437356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437356G>A , CM000666.2:g.177437356G>A	GRCh38
NC_000004.11:g.178358510G>A , CM000666.1:g.178358510G>A	GRCh37
NC_000004.10:g.178595504G>A	NCBI36
NG_011845.2:g.10148C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.622+49C>T MANE Select	ENSP00000264595.2:n.622+49C>T
ENST00000264595.6:c.622+49C>T	ENSP00000264595.2:n.622+49C>T
ENST00000502310.5:c.277+49C>T	ENSP00000423798.1:n.277+49C>T
ENST00000506853.5:n.656+49C>T
ENST00000510635.1:c.318+49C>T
ENST00000510955.5:n.592C>T
NM_000027.3:c.622+49C>T	NP_000018.2:n.622+49C>T
NM_001171988.1:c.622+49C>T	NP_001165459.1:n.622+49C>T
NR_033655.1:n.750+49C>T
XM_006714123.2:c.622+49C>T	XP_006714186.1:n.622+49C>T
XR_001741155.2:n.716+49C>T
NM_000027.4:c.622+49C>T MANE Select	NP_000018.2:n.622+49C>T
NM_001171988.2:c.622+49C>T	NP_001165459.1:n.622+49C>T
NR_033655.2:n.684+49C>T