Canonical Allele Identifier: CA1845641666
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649548A= , CM000671.2:g.34649548A= GRCh38
NC_000009.11:g.34649545A= , CM000671.1:g.34649545A= GRCh37
NC_000009.10:g.34639545A= NCBI36
NG_009029.1:g.7911A=
NG_028966.1:g.2364A=
NG_009029.2:g.7960A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*631A= ENSP00000509954.1:n.*631A=
ENST00000378842.8:c.1043A= MANE Select ENSP00000368119.4:p.Asp348=
ENST00000378842.7:c.1043A= ENSP00000368119.3:p.Asp348=
ENST00000450095.6:c.716A= ENSP00000401956.2:p.Asp239=
ENST00000488412.2:n.627A=
ENST00000489643.6:n.1451A=
ENST00000554550.5:c.*663A= ENSP00000451435.1:n.*663A=
ENST00000554638.5:n.1515A=
ENST00000555020.5:n.1832A=
ENST00000555754.1:n.491A=
ENST00000556278.1:c.432+1092A= ENSP00000451792.1:n.432+1092A=
ENST00000557706.5:n.1618A=
NM_000155.3:c.1043A= NP_000146.2:p.Asp348=
NM_001258332.1:c.716A= NP_001245261.1:p.Asp239=
NM_000155.4:c.1043A= MANE Select NP_000146.2:p.Asp348=
NM_001258332.2:c.716A= NP_001245261.1:p.Asp239=