Canonical Allele Identifier: CA386299228

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1594214374
• gnomAD v4: 12-101764920-A-G
• MyVariant Identifiers: chr12:g.102158698A>G (hg19) ; chr12:g.101764920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764920A>G , CM000674.2:g.101764920A>G	GRCh38
NC_000012.11:g.102158698A>G , CM000674.1:g.102158698A>G	GRCh37
NC_000012.10:g.100682829A>G	NCBI36
NG_021243.1:g.70948T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1997T>C MANE Select	ENSP00000299314.7:p.Phe666Ser
ENST00000299314.11:c.1997T>C	ENSP00000299314.7:p.Phe666Ser
NM_024312.4:c.1997T>C	NP_077288.2:p.Phe666Ser
XM_006719593.2:c.1997T>C	XP_006719656.1:p.Phe666Ser
XM_011538731.1:c.1916T>C	XP_011537033.1:p.Phe639Ser
XM_006719593.3:c.1997T>C	XP_006719656.1:p.Phe666Ser
XM_011538731.2:c.1916T>C	XP_011537033.1:p.Phe639Ser
XM_017019961.1:c.1781T>C	XP_016875450.1:p.Phe594Ser
XM_017019962.2:c.770T>C	XP_016875451.1:p.Phe257Ser
NM_024312.5:c.1997T>C MANE Select	NP_077288.2:p.Phe666Ser