Canonical Allele Identifier: CA6831673
Community Standard Title: NM_000545.8(HNF1A):c.152G>A (p.Gly51Asp)
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978920G>A , CM000674.2:g.120978920G>A GRCh38
NC_000012.11:g.121416723G>A , CM000674.1:g.121416723G>A GRCh37
NC_000012.10:g.119901106G>A NCBI36
NG_011731.2:g.5175G>A , LRG_522:g.5175G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000545.8:c.152G>A MANE Select NP_000536.6:p.Gly51Asp
ENST00000257555.11:c.152G>A MANE Select ENSP00000257555.5:p.Gly51Asp
NM_000545.5:c.152G>A , LRG_522t1:c.152G>A NP_000536.5:p.Gly51Asp
NM_000545.6:c.152G>A NP_000536.5:p.Gly51Asp
NM_001306179.1:c.152G>A NP_001293108.1:p.Gly51Asp
NM_001306179.2:c.152G>A NP_001293108.2:p.Gly51Asp
ENST00000257555.10:c.152G>A ENSP00000257555.4:p.Gly51Asp
ENST00000400024.6:c.152G>A ENSP00000476181.1:p.Gly51Asp
ENST00000402929.5:n.287G>A
ENST00000535955.5:n.42+228G>A
ENST00000538626.2:n.190+80G>A
ENST00000538646.5:c.152G>A ENSP00000443964.1:p.Gly51Asp
ENST00000540108.1:c.152G>A ENSP00000445445.1:p.Gly51Asp
ENST00000541395.5:c.152G>A ENSP00000443112.1:p.Gly51Asp
ENST00000541924.5:c.152G>A ENSP00000440361.1:p.Gly51Asp
ENST00000543427.5:c.152G>A ENSP00000439721.2:p.Gly51Asp
ENST00000544413.2:c.152G>A ENSP00000438804.1:p.Gly51Asp
ENST00000544574.5:c.72+80G>A ENSP00000438565.1:n.72+80G>A
ENST00000560968.5:c.295G>A
ENST00000560968.6:c.152G>A ENSP00000453965.2:p.Gly51Asp
ENST00000615446.4:c.-258+209G>A ENSP00000483994.1:n.-258+209G>A
ENST00000617366.4:c.152G>A ENSP00000481967.1:p.Gly51Asp
XM_005253931.2:c.152G>A XP_005253988.1:p.Gly51Asp
XM_024449168.1:c.152G>A XP_024304936.1:p.Gly51Asp