Canonical Allele Identifier: CA386299233

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158701A>G (hg19) ; chr12:g.101764923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764923A>G , CM000674.2:g.101764923A>G	GRCh38
NC_000012.11:g.102158701A>G , CM000674.1:g.102158701A>G	GRCh37
NC_000012.10:g.100682832A>G	NCBI36
NG_021243.1:g.70945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1994T>C MANE Select	ENSP00000299314.7:p.Leu665Pro
ENST00000299314.11:c.1994T>C	ENSP00000299314.7:p.Leu665Pro
NM_024312.4:c.1994T>C	NP_077288.2:p.Leu665Pro
XM_006719593.2:c.1994T>C	XP_006719656.1:p.Leu665Pro
XM_011538731.1:c.1913T>C	XP_011537033.1:p.Leu638Pro
XM_006719593.3:c.1994T>C	XP_006719656.1:p.Leu665Pro
XM_011538731.2:c.1913T>C	XP_011537033.1:p.Leu638Pro
XM_017019961.1:c.1778T>C	XP_016875450.1:p.Leu593Pro
XM_017019962.2:c.767T>C	XP_016875451.1:p.Leu256Pro
NM_024312.5:c.1994T>C MANE Select	NP_077288.2:p.Leu665Pro