Canonical Allele Identifier: CA1845641295
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649474C= , CM000671.2:g.34649474C= GRCh38
NC_000009.11:g.34649471C= , CM000671.1:g.34649471C= GRCh37
NC_000009.10:g.34639471C= NCBI36
NG_009029.1:g.7837C=
NG_028966.1:g.2290C=
NG_009029.2:g.7886C=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*557C= ENSP00000509954.1:n.*557C=
ENST00000378842.8:c.969C= MANE Select ENSP00000368119.4:p.Tyr323=
ENST00000378842.7:c.969C= ENSP00000368119.3:p.Tyr323=
ENST00000450095.6:c.642C= ENSP00000401956.2:p.Tyr214=
ENST00000488412.2:n.553C=
ENST00000489643.6:n.1377C=
ENST00000554550.5:c.*589C= ENSP00000451435.1:n.*589C=
ENST00000554638.5:n.1441C=
ENST00000555020.5:n.1758C=
ENST00000555754.1:n.417C=
ENST00000556278.1:c.432+1018C= ENSP00000451792.1:n.432+1018C=
ENST00000557706.5:n.1544C=
NM_000155.3:c.969C= NP_000146.2:p.Tyr323=
NM_001258332.1:c.642C= NP_001245261.1:p.Tyr214=
NM_000155.4:c.969C= MANE Select NP_000146.2:p.Tyr323=
NM_001258332.2:c.642C= NP_001245261.1:p.Tyr214=