Canonical Allele Identifier: CA607597898

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1296794412
• gnomAD v2: 12-102147139-T-G
• gnomAD v4: 12-101753361-T-G
• MyVariant Identifiers: chr12:g.102147139T>G (hg19) ; chr12:g.101753361T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753361T>G , CM000674.2:g.101753361T>G	GRCh38
NC_000012.11:g.102147139T>G , CM000674.1:g.102147139T>G	GRCh37
NC_000012.10:g.100671270T>G	NCBI36
NG_021243.1:g.82507A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+11A>C MANE Select	ENSP00000299314.7:n.3602+11A>C
ENST00000299314.11:c.3602+11A>C	ENSP00000299314.7:n.3602+11A>C
ENST00000549738.5:c.500+11A>C	ENSP00000450161.1:n.500+11A>C
NM_024312.4:c.3602+11A>C	NP_077288.2:n.3602+11A>C
XM_011538731.1:c.3521+11A>C	XP_011537033.1:n.3521+11A>C
XM_011538731.2:c.3521+11A>C	XP_011537033.1:n.3521+11A>C
XM_017019961.1:c.3386+11A>C	XP_016875450.1:n.3386+11A>C
XM_017019962.2:c.2375+11A>C	XP_016875451.1:n.2375+11A>C
NM_024312.5:c.3602+11A>C MANE Select	NP_077288.2:n.3602+11A>C