Canonical Allele Identifier: CA2764653740

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437351A>G , CM000666.2:g.177437351A>G	GRCh38
NC_000004.11:g.178358505A>G , CM000666.1:g.178358505A>G	GRCh37
NC_000004.10:g.178595499A>G	NCBI36
NG_011845.2:g.10153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+54T>C MANE Select	ENSP00000264595.2:n.622+54T>C
ENST00000264595.6:c.622+54T>C	ENSP00000264595.2:n.622+54T>C
ENST00000502310.5:c.277+54T>C	ENSP00000423798.1:n.277+54T>C
ENST00000506853.5:n.656+54T>C
ENST00000510635.1:c.318+54T>C
ENST00000510955.5:n.597T>C
NM_000027.3:c.622+54T>C	NP_000018.2:n.622+54T>C
NM_001171988.1:c.622+54T>C	NP_001165459.1:n.622+54T>C
NR_033655.1:n.750+54T>C
XM_006714123.2:c.622+54T>C	XP_006714186.1:n.622+54T>C
XR_001741155.2:n.716+54T>C
NM_000027.4:c.622+54T>C MANE Select	NP_000018.2:n.622+54T>C
NM_001171988.2:c.622+54T>C	NP_001165459.1:n.622+54T>C
NR_033655.2:n.684+54T>C