Canonical Allele Identifier: CA386299019

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1383772676
• gnomAD v4: 12-101764830-G-C
• MyVariant Identifiers: chr12:g.102158608G>C (hg19) ; chr12:g.101764830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764830G>C , CM000674.2:g.101764830G>C	GRCh38
NC_000012.11:g.102158608G>C , CM000674.1:g.102158608G>C	GRCh37
NC_000012.10:g.100682739G>C	NCBI36
NG_021243.1:g.71038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2087C>G MANE Select	ENSP00000299314.7:p.Pro696Arg
ENST00000299314.11:c.2087C>G	ENSP00000299314.7:p.Pro696Arg
NM_024312.4:c.2087C>G	NP_077288.2:p.Pro696Arg
XM_006719593.2:c.2087C>G	XP_006719656.1:p.Pro696Arg
XM_011538731.1:c.2006C>G	XP_011537033.1:p.Pro669Arg
XM_006719593.3:c.2087C>G	XP_006719656.1:p.Pro696Arg
XM_011538731.2:c.2006C>G	XP_011537033.1:p.Pro669Arg
XM_017019961.1:c.1871C>G	XP_016875450.1:p.Pro624Arg
XM_017019962.2:c.860C>G	XP_016875451.1:p.Pro287Arg
NM_024312.5:c.2087C>G MANE Select	NP_077288.2:p.Pro696Arg