Canonical Allele Identifier: CA6746191

Gene: GNPTAB

Linked Data

• dbSNP Id: rs373942566
• ExAC: 12:102151335 G / C
• gnomAD v4: 12-101757557-G-C
• MyVariant Identifiers: chr12:g.102151335G>C (hg19) ; chr12:g.101757557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757557G>C , CM000674.2:g.101757557G>C	GRCh38
NC_000012.11:g.102151335G>C , CM000674.1:g.102151335G>C	GRCh37
NC_000012.10:g.100675466G>C	NCBI36
NG_021243.1:g.78311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+15C>G MANE Select	ENSP00000299314.7:n.3335+15C>G
ENST00000299314.11:c.3335+15C>G	ENSP00000299314.7:n.3335+15C>G
ENST00000549194.1:n.201+15C>G
ENST00000549738.5:c.86+15C>G	ENSP00000450161.1:n.86+15C>G
ENST00000550718.1:c.147+15C>G
NM_024312.4:c.3335+15C>G	NP_077288.2:n.3335+15C>G
XM_006719593.2:c.3335+15C>G	XP_006719656.1:n.3335+15C>G
XM_011538731.1:c.3254+15C>G	XP_011537033.1:n.3254+15C>G
XM_006719593.3:c.3335+15C>G	XP_006719656.1:n.3335+15C>G
XM_011538731.2:c.3254+15C>G	XP_011537033.1:n.3254+15C>G
XM_017019961.1:c.3119+15C>G	XP_016875450.1:n.3119+15C>G
XM_017019962.2:c.2108+15C>G	XP_016875451.1:n.2108+15C>G
NM_024312.5:c.3335+15C>G MANE Select	NP_077288.2:n.3335+15C>G