Canonical Allele Identifier: CA481320790

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1365045126
• gnomAD v2: 12-102164361-A-G
• gnomAD v4: 12-101770583-A-G
• MyVariant Identifiers: chr12:g.102164361A>G (hg19) ; chr12:g.101770583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770583A>G , CM000674.2:g.101770583A>G	GRCh38
NC_000012.11:g.102164361A>G , CM000674.1:g.102164361A>G	GRCh37
NC_000012.10:g.100688492A>G	NCBI36
NG_021243.1:g.65285T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.936T>C MANE Select	ENSP00000299314.7:p.Ser312=
ENST00000299314.11:c.936T>C	ENSP00000299314.7:p.Ser312=
ENST00000549940.5:c.936T>C	ENSP00000449150.1:p.Ser312=
NM_024312.4:c.936T>C	NP_077288.2:p.Ser312=
XM_006719593.2:c.936T>C	XP_006719656.1:p.Ser312=
XM_011538731.1:c.855T>C	XP_011537033.1:p.Ser285=
XM_006719593.3:c.936T>C	XP_006719656.1:p.Ser312=
XM_011538731.2:c.855T>C	XP_011537033.1:p.Ser285=
XM_017019961.1:c.720T>C	XP_016875450.1:p.Ser240=
XM_017019962.2:c.-292T>C	XP_016875451.1:n.-292T>C
NM_024312.5:c.936T>C MANE Select	NP_077288.2:p.Ser312=