Canonical Allele Identifier: CA242453143

Gene: GNPTAB

Linked Data

• dbSNP Id: rs201253355
• gnomAD v4: 12-101760098-G-A
• MyVariant Identifiers: chr12:g.102153876G>A (hg19) ; chr12:g.101760098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760098G>A , CM000674.2:g.101760098G>A	GRCh38
NC_000012.11:g.102153876G>A , CM000674.1:g.102153876G>A	GRCh37
NC_000012.10:g.100678007G>A	NCBI36
NG_021243.1:g.75770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3181C>T MANE Select	ENSP00000299314.7:p.Leu1061Phe
ENST00000299314.11:c.3181C>T	ENSP00000299314.7:p.Leu1061Phe
ENST00000549194.1:n.47C>T
NM_024312.4:c.3181C>T	NP_077288.2:p.Leu1061Phe
XM_006719593.2:c.3181C>T	XP_006719656.1:p.Leu1061Phe
XM_011538731.1:c.3100C>T	XP_011537033.1:p.Leu1034Phe
XM_006719593.3:c.3181C>T	XP_006719656.1:p.Leu1061Phe
XM_011538731.2:c.3100C>T	XP_011537033.1:p.Leu1034Phe
XM_017019961.1:c.2965C>T	XP_016875450.1:p.Leu989Phe
XM_017019962.2:c.1954C>T	XP_016875451.1:p.Leu652Phe
NM_024312.5:c.3181C>T MANE Select	NP_077288.2:p.Leu1061Phe