Canonical Allele Identifier: CA6746342

Gene: GNPTAB

Linked Data

• dbSNP Id: rs745752214
• ExAC: 12:102155439 T / G
• gnomAD v2: 12-102155439-T-G
• MyVariant Identifiers: chr12:g.102155439T>G (hg19) ; chr12:g.101761661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761661T>G , CM000674.2:g.101761661T>G	GRCh38
NC_000012.11:g.102155439T>G , CM000674.1:g.102155439T>G	GRCh37
NC_000012.10:g.100679570T>G	NCBI36
NG_021243.1:g.74207A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2818A>C MANE Select	ENSP00000299314.7:p.Lys940Gln
ENST00000299314.11:c.2818A>C	ENSP00000299314.7:p.Lys940Gln
NM_024312.4:c.2818A>C	NP_077288.2:p.Lys940Gln
XM_006719593.2:c.2818A>C	XP_006719656.1:p.Lys940Gln
XM_011538731.1:c.2737A>C	XP_011537033.1:p.Lys913Gln
XM_006719593.3:c.2818A>C	XP_006719656.1:p.Lys940Gln
XM_011538731.2:c.2737A>C	XP_011537033.1:p.Lys913Gln
XM_017019961.1:c.2602A>C	XP_016875450.1:p.Lys868Gln
XM_017019962.2:c.1591A>C	XP_016875451.1:p.Lys531Gln
NM_024312.5:c.2818A>C MANE Select	NP_077288.2:p.Lys940Gln