Canonical Allele Identifier: CA386302930

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1427193351
• gnomAD v2: 12-102164189-G-A
• gnomAD v4: 12-101770411-G-A
• MyVariant Identifiers: chr12:g.102164189G>A (hg19) ; chr12:g.101770411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770411G>A , CM000674.2:g.101770411G>A	GRCh38
NC_000012.11:g.102164189G>A , CM000674.1:g.102164189G>A	GRCh37
NC_000012.10:g.100688320G>A	NCBI36
NG_021243.1:g.65457C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1108C>T MANE Select	ENSP00000299314.7:p.His370Tyr
ENST00000299314.11:c.1108C>T	ENSP00000299314.7:p.His370Tyr
ENST00000549940.5:c.1108C>T	ENSP00000449150.1:p.His370Tyr
NM_024312.4:c.1108C>T	NP_077288.2:p.His370Tyr
XM_006719593.2:c.1108C>T	XP_006719656.1:p.His370Tyr
XM_011538731.1:c.1027C>T	XP_011537033.1:p.His343Tyr
XM_006719593.3:c.1108C>T	XP_006719656.1:p.His370Tyr
XM_011538731.2:c.1027C>T	XP_011537033.1:p.His343Tyr
XM_017019961.1:c.892C>T	XP_016875450.1:p.His298Tyr
XM_017019962.2:c.-120C>T	XP_016875451.1:n.-120C>T
NM_024312.5:c.1108C>T MANE Select	NP_077288.2:p.His370Tyr