Canonical Allele Identifier: CA10154478
Community Standard Title: NM_001288833.2(GGT1):c.815T>C (p.Val272Ala)
Gene: GGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24623188T>C , CM000684.2:g.24623188T>C GRCh38
NC_000022.10:g.25019155T>C , CM000684.1:g.25019155T>C GRCh37
NC_000022.9:g.23349155T>C NCBI36
NG_008111.1:g.44438T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001288833.2:c.815T>C MANE Select NP_001275762.1:p.Val272Ala
ENST00000400382.6:c.815T>C MANE Select ENSP00000383232.1:p.Val272Ala
NM_001288833.1:c.815T>C NP_001275762.1:p.Val272Ala
NM_013421.2:c.815T>C NP_038265.2:p.Val272Ala
NM_013421.3:c.815T>C NP_038265.2:p.Val272Ala
NM_013430.2:c.815T>C NP_038347.2:p.Val272Ala
NM_013430.3:c.815T>C NP_038347.2:p.Val272Ala
ENST00000248923.8:c.815T>C ENSP00000248923.4:p.Val272Ala
ENST00000400380.5:c.815T>C ENSP00000383231.1:p.Val272Ala
ENST00000400382.5:c.815T>C ENSP00000383232.1:p.Val272Ala
ENST00000412658.5:c.815T>C ENSP00000393537.1:p.Val272Ala
ENST00000425895.5:c.815T>C ENSP00000387499.1:p.Val272Ala
ENST00000466310.5:n.195T>C
ENST00000651180.1:n.1302T>C
ENST00000652248.1:c.*1305T>C ENSP00000499210.1:n.*1305T>C