Canonical Allele Identifier: CA6746493

Gene: GNPTAB

Linked Data

• dbSNP Id: rs377477023
• ExAC: 12:102158702 G / C
• gnomAD v2: 12-102158702-G-C
• MyVariant Identifiers: chr12:g.102158702G>C (hg19) ; chr12:g.101764924G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764924G>C , CM000674.2:g.101764924G>C	GRCh38
NC_000012.11:g.102158702G>C , CM000674.1:g.102158702G>C	GRCh37
NC_000012.10:g.100682833G>C	NCBI36
NG_021243.1:g.70944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1993C>G MANE Select	ENSP00000299314.7:p.Leu665Val
ENST00000299314.11:c.1993C>G	ENSP00000299314.7:p.Leu665Val
NM_024312.4:c.1993C>G	NP_077288.2:p.Leu665Val
XM_006719593.2:c.1993C>G	XP_006719656.1:p.Leu665Val
XM_011538731.1:c.1912C>G	XP_011537033.1:p.Leu638Val
XM_006719593.3:c.1993C>G	XP_006719656.1:p.Leu665Val
XM_011538731.2:c.1912C>G	XP_011537033.1:p.Leu638Val
XM_017019961.1:c.1777C>G	XP_016875450.1:p.Leu593Val
XM_017019962.2:c.766C>G	XP_016875451.1:p.Leu256Val
NM_024312.5:c.1993C>G MANE Select	NP_077288.2:p.Leu665Val