Canonical Allele Identifier: CA1125767090

Gene: PSAT1

Linked Data

• gnomAD v3: 9-78300732-T-TTTTG
• gnomAD v4: 9-78300732-T-TTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78300732_78300733insTTTG , CM000671.2:g.78300732_78300733insTTTG	GRCh38
NC_000009.11:g.80915648_80915649insTTTG , CM000671.1:g.80915648_80915649insTTTG	GRCh37
NC_000009.10:g.80105468_80105469insTTTG	NCBI36
NG_012165.1:g.8590_8591insTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.121+70_121+71insTTTG MANE Select	ENSP00000365773.3:n.121+70_121+71insTTTG
ENST00000347159.6:c.121+70_121+71insTTTG	ENSP00000317606.2:n.121+70_121+71insTTTG
ENST00000376588.3:c.121+70_121+71insTTTG	ENSP00000365773.3:n.121+70_121+71insTTTG
NM_021154.4:c.121+70_121+71insTTTG	NP_066977.1:n.121+70_121+71insTTTG
NM_058179.3:c.121+70_121+71insTTTG	NP_478059.1:n.121+70_121+71insTTTG
NM_058179.4:c.121+70_121+71insTTTG MANE Select	NP_478059.1:n.121+70_121+71insTTTG
NM_021154.5:c.121+70_121+71insTTTG	NP_066977.1:n.121+70_121+71insTTTG