Canonical Allele Identifier: CA242453168

Gene: GNPTAB

Linked Data

• dbSNP Id: rs888413117
• gnomAD v4: 12-101760120-C-G
• MyVariant Identifiers: chr12:g.102153898C>G (hg19) ; chr12:g.101760120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760120C>G , CM000674.2:g.101760120C>G	GRCh38
NC_000012.11:g.102153898C>G , CM000674.1:g.102153898C>G	GRCh37
NC_000012.10:g.100678029C>G	NCBI36
NG_021243.1:g.75748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3159G>C MANE Select	ENSP00000299314.7:p.Met1053Ile
ENST00000299314.11:c.3159G>C	ENSP00000299314.7:p.Met1053Ile
ENST00000549194.1:n.25G>C
NM_024312.4:c.3159G>C	NP_077288.2:p.Met1053Ile
XM_006719593.2:c.3159G>C	XP_006719656.1:p.Met1053Ile
XM_011538731.1:c.3078G>C	XP_011537033.1:p.Met1026Ile
XM_006719593.3:c.3159G>C	XP_006719656.1:p.Met1053Ile
XM_011538731.2:c.3078G>C	XP_011537033.1:p.Met1026Ile
XM_017019961.1:c.2943G>C	XP_016875450.1:p.Met981Ile
XM_017019962.2:c.1932G>C	XP_016875451.1:p.Met644Ile
NM_024312.5:c.3159G>C MANE Select	NP_077288.2:p.Met1053Ile