Canonical Allele Identifier: CA242454311

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1020172077
• gnomAD v2: 12-102155408-G-A
• gnomAD v3: 12-101761630-G-A
• gnomAD v4: 12-101761630-G-A
• MyVariant Identifiers: chr12:g.102155408G>A (hg19) ; chr12:g.101761630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761630G>A , CM000674.2:g.101761630G>A	GRCh38
NC_000012.11:g.102155408G>A , CM000674.1:g.102155408G>A	GRCh37
NC_000012.10:g.100679539G>A	NCBI36
NG_021243.1:g.74238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2849C>T MANE Select	ENSP00000299314.7:p.Ser950Leu
ENST00000299314.11:c.2849C>T	ENSP00000299314.7:p.Ser950Leu
NM_024312.4:c.2849C>T	NP_077288.2:p.Ser950Leu
XM_006719593.2:c.2849C>T	XP_006719656.1:p.Ser950Leu
XM_011538731.1:c.2768C>T	XP_011537033.1:p.Ser923Leu
XM_006719593.3:c.2849C>T	XP_006719656.1:p.Ser950Leu
XM_011538731.2:c.2768C>T	XP_011537033.1:p.Ser923Leu
XM_017019961.1:c.2633C>T	XP_016875450.1:p.Ser878Leu
XM_017019962.2:c.1622C>T	XP_016875451.1:p.Ser541Leu
NM_024312.5:c.2849C>T MANE Select	NP_077288.2:p.Ser950Leu