Canonical Allele Identifier: CA373871600
Gene: PSAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300656G>C , CM000671.2:g.78300656G>C GRCh38
NC_000009.11:g.80915572G>C , CM000671.1:g.80915572G>C GRCh37
NC_000009.10:g.80105392G>C NCBI36
NG_012165.1:g.8514G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.115G>C MANE Select ENSP00000365773.3:p.Val39Leu
ENST00000347159.6:c.115G>C ENSP00000317606.2:p.Val39Leu
ENST00000376588.3:c.115G>C ENSP00000365773.3:p.Val39Leu
NM_021154.4:c.115G>C NP_066977.1:p.Val39Leu
NM_058179.3:c.115G>C NP_478059.1:p.Val39Leu
NM_058179.4:c.115G>C MANE Select NP_478059.1:p.Val39Leu
NM_021154.5:c.115G>C NP_066977.1:p.Val39Leu