Canonical Allele Identifier: CA2000617669
Gene: PTS HGNC NCBI

Linked Data

dbSNP Id: rs774752201
gnomAD v4: 11-112228707-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228707A>G , CM000673.2:g.112228707A>G GRCh38
NC_000011.9:g.112099430A>G , CM000673.1:g.112099430A>G GRCh37
NC_000011.8:g.111604640A>G NCBI36
NG_008743.1:g.7343A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.163+34A>G MANE Select ENSP00000280362.3:n.163+34A>G
ENST00000280362.7:c.163+34A>G ENSP00000280362.3:n.163+34A>G
ENST00000524931.1:c.-42+34A>G ENSP00000434688.1:n.-42+34A>G
ENST00000525645.1:n.272A>G
ENST00000525803.1:c.163+34A>G ENSP00000431750.1:n.163+34A>G
ENST00000528679.5:c.163+34A>G ENSP00000435895.1:n.163+34A>G
ENST00000531673.5:c.163+34A>G ENSP00000433469.1:n.163+34A>G
NM_000317.2:c.163+34A>G NP_000308.1:n.163+34A>G
XM_011542943.1:c.-656A>G XP_011541245.1:n.-656A>G
NM_000317.3:c.163+34A>G MANE Select NP_000308.1:n.163+34A>G
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