Canonical Allele Identifier: CA386292291

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952851959
• gnomAD v4: 12-101753420-G-A
• MyVariant Identifiers: chr12:g.102147198G>A (hg19) ; chr12:g.101753420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753420G>A , CM000674.2:g.101753420G>A	GRCh38
NC_000012.11:g.102147198G>A , CM000674.1:g.102147198G>A	GRCh37
NC_000012.10:g.100671329G>A	NCBI36
NG_021243.1:g.82448C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3554C>T MANE Select	ENSP00000299314.7:p.Pro1185Leu
ENST00000299314.11:c.3554C>T	ENSP00000299314.7:p.Pro1185Leu
ENST00000549738.5:c.452C>T	ENSP00000450161.1:n.452C>T
NM_024312.4:c.3554C>T	NP_077288.2:p.Pro1185Leu
XM_011538731.1:c.3473C>T	XP_011537033.1:p.Pro1158Leu
XM_011538731.2:c.3473C>T	XP_011537033.1:p.Pro1158Leu
XM_017019961.1:c.3338C>T	XP_016875450.1:p.Pro1113Leu
XM_017019962.2:c.2327C>T	XP_016875451.1:p.Pro776Leu
NM_024312.5:c.3554C>T MANE Select	NP_077288.2:p.Pro1185Leu