Canonical Allele Identifier: CA386296175

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761608-C-G
• MyVariant Identifiers: chr12:g.102155386C>G (hg19) ; chr12:g.101761608C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761608C>G , CM000674.2:g.101761608C>G	GRCh38
NC_000012.11:g.102155386C>G , CM000674.1:g.102155386C>G	GRCh37
NC_000012.10:g.100679517C>G	NCBI36
NG_021243.1:g.74260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2871G>C MANE Select	ENSP00000299314.7:p.Met957Ile
ENST00000299314.11:c.2871G>C	ENSP00000299314.7:p.Met957Ile
NM_024312.4:c.2871G>C	NP_077288.2:p.Met957Ile
XM_006719593.2:c.2871G>C	XP_006719656.1:p.Met957Ile
XM_011538731.1:c.2790G>C	XP_011537033.1:p.Met930Ile
XM_006719593.3:c.2871G>C	XP_006719656.1:p.Met957Ile
XM_011538731.2:c.2790G>C	XP_011537033.1:p.Met930Ile
XM_017019961.1:c.2655G>C	XP_016875450.1:p.Met885Ile
XM_017019962.2:c.1644G>C	XP_016875451.1:p.Met548Ile
NM_024312.5:c.2871G>C MANE Select	NP_077288.2:p.Met957Ile