Canonical Allele Identifier: CA386296495

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1207898186
• gnomAD v3: 12-101761753-G-A
• gnomAD v4: 12-101761753-G-A
• MyVariant Identifiers: chr12:g.102155531G>A (hg19) ; chr12:g.101761753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761753G>A , CM000674.2:g.101761753G>A	GRCh38
NC_000012.11:g.102155531G>A , CM000674.1:g.102155531G>A	GRCh37
NC_000012.10:g.100679662G>A	NCBI36
NG_021243.1:g.74115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2726C>T MANE Select	ENSP00000299314.7:p.Ser909Leu
ENST00000299314.11:c.2726C>T	ENSP00000299314.7:p.Ser909Leu
NM_024312.4:c.2726C>T	NP_077288.2:p.Ser909Leu
XM_006719593.2:c.2726C>T	XP_006719656.1:p.Ser909Leu
XM_011538731.1:c.2645C>T	XP_011537033.1:p.Ser882Leu
XM_006719593.3:c.2726C>T	XP_006719656.1:p.Ser909Leu
XM_011538731.2:c.2645C>T	XP_011537033.1:p.Ser882Leu
XM_017019961.1:c.2510C>T	XP_016875450.1:p.Ser837Leu
XM_017019962.2:c.1499C>T	XP_016875451.1:p.Ser500Leu
NM_024312.5:c.2726C>T MANE Select	NP_077288.2:p.Ser909Leu