Canonical Allele Identifier: CA242473630

Gene: GNPTAB

Linked Data

• dbSNP Id: rs374271075
• gnomAD v4: 12-101786312-A-G
• MyVariant Identifiers: chr12:g.102180090A>G (hg19) ; chr12:g.101786312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786312A>G , CM000674.2:g.101786312A>G	GRCh38
NC_000012.11:g.102180090A>G , CM000674.1:g.102180090A>G	GRCh37
NC_000012.10:g.100704221A>G	NCBI36
NG_021243.1:g.49556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-95T>C MANE Select	ENSP00000299314.7:n.366-95T>C
ENST00000299314.11:c.366-95T>C	ENSP00000299314.7:n.366-95T>C
ENST00000549940.5:c.366-95T>C	ENSP00000449150.1:n.366-95T>C
ENST00000550352.1:n.160-95T>C
NM_024312.4:c.366-95T>C	NP_077288.2:n.366-95T>C
XM_006719593.2:c.366-95T>C	XP_006719656.1:n.366-95T>C
XM_011538731.1:c.285-95T>C	XP_011537033.1:n.285-95T>C
XM_006719593.3:c.366-95T>C	XP_006719656.1:n.366-95T>C
XM_011538731.2:c.285-95T>C	XP_011537033.1:n.285-95T>C
XM_017019961.1:c.150-95T>C	XP_016875450.1:n.150-95T>C
XM_017019962.2:c.-985-95T>C	XP_016875451.1:n.-985-95T>C
NM_024312.5:c.366-95T>C MANE Select	NP_077288.2:n.366-95T>C