Canonical Allele Identifier: CA607157650

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1234465786
• gnomAD v2: 12-102190422-C-G
• gnomAD v4: 12-101796644-C-G
• MyVariant Identifiers: chr12:g.102190422C>G (hg19) ; chr12:g.101796644C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796644C>G , CM000674.2:g.101796644C>G	GRCh38
NC_000012.11:g.102190422C>G , CM000674.1:g.102190422C>G	GRCh37
NC_000012.10:g.100714553C>G	NCBI36
NG_021243.1:g.39224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+33G>C MANE Select	ENSP00000299314.7:n.203+33G>C
ENST00000647144.1:n.323+33G>C
ENST00000299314.11:c.203+33G>C	ENSP00000299314.7:n.203+33G>C
ENST00000392919.4:c.203+33G>C	ENSP00000376651.4:n.203+33G>C
ENST00000549165.1:c.*29G>C	ENSP00000450413.1:n.*29G>C
ENST00000549940.5:c.203+33G>C	ENSP00000449150.1:n.203+33G>C
NM_024312.4:c.203+33G>C	NP_077288.2:n.203+33G>C
XM_006719593.2:c.203+33G>C	XP_006719656.1:n.203+33G>C
XM_011538731.1:c.122+33G>C	XP_011537033.1:n.122+33G>C
XM_006719593.3:c.203+33G>C	XP_006719656.1:n.203+33G>C
XM_011538731.2:c.122+33G>C	XP_011537033.1:n.122+33G>C
XM_017019961.1:c.-14+33G>C	XP_016875450.1:n.-14+33G>C
XM_017019962.2:c.-1148+33G>C	XP_016875451.1:n.-1148+33G>C
NM_024312.5:c.203+33G>C MANE Select	NP_077288.2:n.203+33G>C