Canonical Allele Identifier: CA358783665

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360783A>G (hg19) ; chr4:g.177439629A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439629A>G , CM000666.2:g.177439629A>G	GRCh38
NC_000004.11:g.178360783A>G , CM000666.1:g.178360783A>G	GRCh37
NC_000004.10:g.178597777A>G	NCBI36
NG_011845.2:g.7875T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.341T>C MANE Select	ENSP00000264595.2:p.Val114Ala
ENST00000264595.6:c.341T>C	ENSP00000264595.2:p.Val114Ala
ENST00000506853.5:n.375T>C
ENST00000510635.1:c.37T>C
ENST00000510955.5:n.315+644T>C
NM_000027.3:c.341T>C	NP_000018.2:p.Val114Ala
NM_001171988.1:c.341T>C	NP_001165459.1:p.Val114Ala
NR_033655.1:n.469T>C
XM_006714123.2:c.341T>C	XP_006714186.1:p.Val114Ala
XR_001741155.2:n.435T>C
NM_000027.4:c.341T>C MANE Select	NP_000018.2:p.Val114Ala
NM_001171988.2:c.341T>C	NP_001165459.1:p.Val114Ala
NR_033655.2:n.403T>C