Canonical Allele Identifier: CA242473380

Gene: GNPTAB

Linked Data

• dbSNP Id: rs537398252
• gnomAD v3: 12-101786113-A-G
• gnomAD v4: 12-101786113-A-G
• MyVariant Identifiers: chr12:g.102179891A>G (hg19) ; chr12:g.101786113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786113A>G , CM000674.2:g.101786113A>G	GRCh38
NC_000012.11:g.102179891A>G , CM000674.1:g.102179891A>G	GRCh37
NC_000012.10:g.100704022A>G	NCBI36
NG_021243.1:g.49755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.470T>C MANE Select	ENSP00000299314.7:p.Leu157Pro
ENST00000299314.11:c.470T>C	ENSP00000299314.7:p.Leu157Pro
ENST00000549940.5:c.470T>C	ENSP00000449150.1:p.Leu157Pro
ENST00000550352.1:n.264T>C
ENST00000552681.1:c.104T>C	ENSP00000449217.1:p.Leu35Pro
NM_024312.4:c.470T>C	NP_077288.2:p.Leu157Pro
XM_006719593.2:c.470T>C	XP_006719656.1:p.Leu157Pro
XM_011538731.1:c.389T>C	XP_011537033.1:p.Leu130Pro
XM_006719593.3:c.470T>C	XP_006719656.1:p.Leu157Pro
XM_011538731.2:c.389T>C	XP_011537033.1:p.Leu130Pro
XM_017019961.1:c.254T>C	XP_016875450.1:p.Leu85Pro
XM_017019962.2:c.-881T>C	XP_016875451.1:n.-881T>C
NM_024312.5:c.470T>C MANE Select	NP_077288.2:p.Leu157Pro