Canonical Allele Identifier: CA6746714

Gene: GNPTAB

Linked Data

• dbSNP Id: rs369257408
• ExAC: 12:102164164 A / G
• gnomAD v2: 12-102164164-A-G
• gnomAD v3: 12-101770386-A-G
• gnomAD v4: 12-101770386-A-G
• MyVariant Identifiers: chr12:g.102164164A>G (hg19) ; chr12:g.102164164_102164165delinsGT (hg19) ; chr12:g.101770386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770386A>G , CM000674.2:g.101770386A>G	GRCh38
NC_000012.11:g.102164164A>G , CM000674.1:g.102164164A>G	GRCh37
NC_000012.10:g.100688295A>G	NCBI36
NG_021243.1:g.65482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1113+20T>C MANE Select	ENSP00000299314.7:n.1113+20T>C
ENST00000299314.11:c.1113+20T>C	ENSP00000299314.7:n.1113+20T>C
ENST00000549940.5:c.1113+20T>C	ENSP00000449150.1:n.1113+20T>C
NM_024312.4:c.1113+20T>C	NP_077288.2:n.1113+20T>C
XM_006719593.2:c.1113+20T>C	XP_006719656.1:n.1113+20T>C
XM_011538731.1:c.1032+20T>C	XP_011537033.1:n.1032+20T>C
XM_006719593.3:c.1113+20T>C	XP_006719656.1:n.1113+20T>C
XM_011538731.2:c.1032+20T>C	XP_011537033.1:n.1032+20T>C
XM_017019961.1:c.897+20T>C	XP_016875450.1:n.897+20T>C
XM_017019962.2:c.-115+20T>C	XP_016875451.1:n.-115+20T>C
NM_024312.5:c.1113+20T>C MANE Select	NP_077288.2:n.1113+20T>C