Canonical Allele Identifier: CA386294797

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760101-T-C
• MyVariant Identifiers: chr12:g.102153879T>C (hg19) ; chr12:g.101760101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760101T>C , CM000674.2:g.101760101T>C	GRCh38
NC_000012.11:g.102153879T>C , CM000674.1:g.102153879T>C	GRCh37
NC_000012.10:g.100678010T>C	NCBI36
NG_021243.1:g.75767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3178A>G MANE Select	ENSP00000299314.7:p.Met1060Val
ENST00000299314.11:c.3178A>G	ENSP00000299314.7:p.Met1060Val
ENST00000549194.1:n.44A>G
NM_024312.4:c.3178A>G	NP_077288.2:p.Met1060Val
XM_006719593.2:c.3178A>G	XP_006719656.1:p.Met1060Val
XM_011538731.1:c.3097A>G	XP_011537033.1:p.Met1033Val
XM_006719593.3:c.3178A>G	XP_006719656.1:p.Met1060Val
XM_011538731.2:c.3097A>G	XP_011537033.1:p.Met1033Val
XM_017019961.1:c.2962A>G	XP_016875450.1:p.Met988Val
XM_017019962.2:c.1951A>G	XP_016875451.1:p.Met651Val
NM_024312.5:c.3178A>G MANE Select	NP_077288.2:p.Met1060Val