Canonical Allele Identifier: CA373872471
Gene: PSAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304889A>C , CM000671.2:g.78304889A>C GRCh38
NC_000009.11:g.80919805A>C , CM000671.1:g.80919805A>C GRCh37
NC_000009.10:g.80109625A>C NCBI36
NG_012165.1:g.12747A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.346A>C MANE Select ENSP00000365773.3:p.Lys116Gln
ENST00000347159.6:c.346A>C ENSP00000317606.2:p.Lys116Gln
ENST00000376588.3:c.346A>C ENSP00000365773.3:p.Lys116Gln
NM_021154.4:c.346A>C NP_066977.1:p.Lys116Gln
NM_058179.3:c.346A>C NP_478059.1:p.Lys116Gln
NM_058179.4:c.346A>C MANE Select NP_478059.1:p.Lys116Gln
NM_021154.5:c.346A>C NP_066977.1:p.Lys116Gln