Canonical Allele Identifier: CA464401745
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1410764100
gnomAD v2: 9-34646707-G-T
gnomAD v4: 9-34646710-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646710G>T , CM000671.2:g.34646710G>T GRCh38
NC_000009.11:g.34646707G>T , CM000671.1:g.34646707G>T GRCh37
NC_000009.10:g.34636707G>T NCBI36
NG_009029.1:g.5073G>T
NG_009029.2:g.5122G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.6G>T ENSP00000509954.1:p.Ser2=
ENST00000378842.8:c.6G>T MANE Select ENSP00000368119.4:p.Ser2=
ENST00000378842.7:c.6G>T ENSP00000368119.3:p.Ser2=
ENST00000450095.6:c.-197G>T ENSP00000401956.2:n.-197G>T
ENST00000465543.6:n.43G>T
ENST00000468099.2:n.78G>T
ENST00000472111.5:n.47G>T
ENST00000473506.6:c.6G>T ENSP00000432839.2:p.Ser2=
ENST00000473529.5:n.53G>T
ENST00000487381.5:n.32G>T
ENST00000489643.6:n.36G>T
ENST00000554085.5:c.6G>T ENSP00000450419.1:p.Ser2=
ENST00000554139.5:n.59G>T
ENST00000554550.5:c.6G>T ENSP00000451435.1:p.Ser2=
ENST00000554638.5:n.30G>T
ENST00000554897.5:c.6G>T ENSP00000450942.1:p.Ser2=
ENST00000554944.5:n.36G>T
ENST00000555020.5:n.36G>T
ENST00000555214.5:n.15G>T
ENST00000556278.1:c.6G>T ENSP00000451792.1:p.Ser2=
ENST00000557541.5:n.66G>T
ENST00000605275.1:n.242G>T
NM_000155.3:c.6G>T NP_000146.2:p.Ser2=
NM_001258332.1:c.-197G>T NP_001245261.1:n.-197G>T
NM_000155.4:c.6G>T MANE Select NP_000146.2:p.Ser2=
NM_001258332.2:c.-197G>T NP_001245261.1:n.-197G>T