Canonical Allele Identifier: CA481317627
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147230G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753452G>C , CM000674.2:g.101753452G>C GRCh38
NC_000012.11:g.102147230G>C , CM000674.1:g.102147230G>C GRCh37
NC_000012.10:g.100671361G>C NCBI36
NG_021243.1:g.82416C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3522C>G MANE Select ENSP00000299314.7:p.Ser1174=
ENST00000299314.11:c.3522C>G ENSP00000299314.7:p.Ser1174=
ENST00000549738.5:c.420C>G ENSP00000450161.1:n.420C>G
NM_024312.4:c.3522C>G NP_077288.2:p.Ser1174=
XM_011538731.1:c.3441C>G XP_011537033.1:p.Ser1147=
XM_011538731.2:c.3441C>G XP_011537033.1:p.Ser1147=
XM_017019961.1:c.3306C>G XP_016875450.1:p.Ser1102=
XM_017019962.2:c.2295C>G XP_016875451.1:p.Ser765=
NM_024312.5:c.3522C>G MANE Select NP_077288.2:p.Ser1174=
Search 100 bp 5'
Search 100 bp 3'