Canonical Allele Identifier: CA60562876

Gene: GAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170851590G>C , CM000664.2:g.170851590G>C	GRCh38
NC_000002.11:g.171708100G>C , CM000664.1:g.171708100G>C	GRCh37
NC_000002.10:g.171416346G>C	NCBI36
NG_021477.1:g.39901G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000817.3:c.1185-1124G>C MANE Select	NP_000808.2:n.1185-1124G>C
ENST00000358196.8:c.1185-1124G>C MANE Select	ENSP00000350928.3:n.1185-1124G>C
NM_000817.2:c.1185-1124G>C	NP_000808.2:n.1185-1124G>C
ENST00000358196.7:c.1185-1124G>C	ENSP00000350928.3:n.1185-1124G>C
ENST00000414527.6:c.*370-1124G>C	ENSP00000403849.1:n.*370-1124G>C
ENST00000488724.5:n.285-1124G>C
ENST00000493875.5:c.*19-1124G>C	ENSP00000434696.1:n.*19-1124G>C
ENST00000625689.2:c.*19-1124G>C	ENSP00000486612.1:n.*19-1124G>C
XM_011510922.1:c.1185-1124G>C	XP_011509224.1:n.1185-1124G>C
XM_017003756.1:c.1185-1124G>C	XP_016859245.1:n.1185-1124G>C
XM_024452783.1:c.417-1124G>C	XP_024308551.1:n.417-1124G>C