Canonical Allele Identifier: CA6746733

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1028805
• ClinVar RCV Id: RCV001329951
• dbSNP Id: rs370033001
• ExAC: 12:102164276 G / A
• gnomAD v2: 12-102164276-G-A
• gnomAD v3: 12-101770498-G-A
• gnomAD v4: 12-101770498-G-A
• MyVariant Identifiers: chr12:g.102164276G>A (hg19) ; chr12:g.101770498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770498G>A , CM000674.2:g.101770498G>A	GRCh38
NC_000012.11:g.102164276G>A , CM000674.1:g.102164276G>A	GRCh37
NC_000012.10:g.100688407G>A	NCBI36
NG_021243.1:g.65370C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1021C>T MANE Select	ENSP00000299314.7:p.Pro341Ser
ENST00000299314.11:c.1021C>T	ENSP00000299314.7:p.Pro341Ser
ENST00000549940.5:c.1021C>T	ENSP00000449150.1:p.Pro341Ser
NM_024312.4:c.1021C>T	NP_077288.2:p.Pro341Ser
XM_006719593.2:c.1021C>T	XP_006719656.1:p.Pro341Ser
XM_011538731.1:c.940C>T	XP_011537033.1:p.Pro314Ser
XM_006719593.3:c.1021C>T	XP_006719656.1:p.Pro341Ser
XM_011538731.2:c.940C>T	XP_011537033.1:p.Pro314Ser
XM_017019961.1:c.805C>T	XP_016875450.1:p.Pro269Ser
XM_017019962.2:c.-207C>T	XP_016875451.1:n.-207C>T
NM_024312.5:c.1021C>T MANE Select	NP_077288.2:p.Pro341Ser