Canonical Allele Identifier: CA373285278
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*631A>T ENSP00000509954.1:n.*631A>T
ENST00000378842.8:c.1043A>T MANE Select ENSP00000368119.4:p.Asp348Val
ENST00000378842.7:c.1043A>T ENSP00000368119.3:p.Asp348Val
ENST00000450095.6:c.716A>T ENSP00000401956.2:p.Asp239Val
ENST00000488412.2:n.627A>T
ENST00000489643.6:n.1451A>T
ENST00000554550.5:c.*663A>T ENSP00000451435.1:n.*663A>T
ENST00000554638.5:n.1515A>T
ENST00000555020.5:n.1832A>T
ENST00000555754.1:n.491A>T
ENST00000556278.1:c.432+1092A>T ENSP00000451792.1:n.432+1092A>T
ENST00000557706.5:n.1618A>T
NM_000155.3:c.1043A>T NP_000146.2:p.Asp348Val
NM_001258332.1:c.716A>T NP_001245261.1:p.Asp239Val
NM_000155.4:c.1043A>T MANE Select NP_000146.2:p.Asp348Val
NM_001258332.2:c.716A>T NP_001245261.1:p.Asp239Val