Canonical Allele Identifier: CA16619450

Gene: HNF1A

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978823T>G , CM000674.2:g.120978823T>G	GRCh38
NC_000012.11:g.121416626T>G , CM000674.1:g.121416626T>G	GRCh37
NC_000012.10:g.119901009T>G	NCBI36
NG_011731.2:g.5078T>G , LRG_522:g.5078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.55T>G	ENSP00000453965.2:p.Ser19Ala
ENST00000257555.11:c.55T>G MANE Select	ENSP00000257555.5:p.Ser19Ala
ENST00000257555.10:c.55T>G	ENSP00000257555.4:p.Ser19Ala
ENST00000400024.6:c.55T>G	ENSP00000476181.1:p.Ser19Ala
ENST00000402929.5:n.190T>G
ENST00000535955.5:n.42+131T>G
ENST00000538626.2:n.173T>G
ENST00000538646.5:c.55T>G	ENSP00000443964.1:p.Ser19Ala
ENST00000540108.1:c.55T>G	ENSP00000445445.1:p.Ser19Ala
ENST00000541395.5:c.55T>G	ENSP00000443112.1:p.Ser19Ala
ENST00000541924.5:c.55T>G	ENSP00000440361.1:p.Ser19Ala
ENST00000543427.5:c.55T>G	ENSP00000439721.2:p.Ser19Ala
ENST00000544413.2:c.55T>G	ENSP00000438804.1:p.Ser19Ala
ENST00000544574.5:c.55T>G	ENSP00000438565.1:p.Ser19Ala
ENST00000560968.5:c.198T>G
ENST00000615446.4:c.-258+112T>G	ENSP00000483994.1:n.-258+112T>G
ENST00000617366.4:c.55T>G	ENSP00000481967.1:p.Ser19Ala
NM_000545.5:c.55T>G , LRG_522t1:c.55T>G	NP_000536.5:p.Ser19Ala
NM_000545.6:c.55T>G	NP_000536.5:p.Ser19Ala
NM_001306179.1:c.55T>G	NP_001293108.1:p.Ser19Ala
XM_005253931.2:c.55T>G	XP_005253988.1:p.Ser19Ala
XM_024449168.1:c.55T>G	XP_024304936.1:p.Ser19Ala
NM_000545.8:c.55T>G MANE Select	NP_000536.6:p.Ser19Ala
NM_001306179.2:c.55T>G	NP_001293108.2:p.Ser19Ala