Canonical Allele Identifier: CA1845636116
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647486C= , CM000671.2:g.34647486C= GRCh38
NC_000009.11:g.34647483C= , CM000671.1:g.34647483C= GRCh37
NC_000009.10:g.34637483C= NCBI36
NG_009029.1:g.5849C=
NG_028966.1:g.302C=
NG_009029.2:g.5898C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.253-6C= ENSP00000509954.1:n.253-6C=
ENST00000378842.8:c.253-6C= MANE Select ENSP00000368119.4:n.253-6C=
ENST00000378842.7:c.253-6C= ENSP00000368119.3:n.253-6C=
ENST00000450095.6:c.50+228C= ENSP00000401956.2:n.50+228C=
ENST00000465543.6:n.592-6C=
ENST00000468099.2:n.520C=
ENST00000472111.5:n.294-6C=
ENST00000473506.6:c.253-55C= ENSP00000432839.2:n.253-55C=
ENST00000473529.5:n.300-6C=
ENST00000485531.1:n.473C=
ENST00000487381.5:n.506C=
ENST00000489643.6:n.282+228C=
ENST00000554085.5:c.264C= ENSP00000450419.1:p.Val88=
ENST00000554139.5:n.306-6C=
ENST00000554330.5:n.250-55C=
ENST00000554550.5:c.252+228C= ENSP00000451435.1:n.252+228C=
ENST00000554638.5:n.504C=
ENST00000554897.5:c.252+228C= ENSP00000450942.1:n.252+228C=
ENST00000554944.5:n.283-55C=
ENST00000555020.5:n.283-6C=
ENST00000555086.5:n.257-6C=
ENST00000555214.5:n.261+228C=
ENST00000556157.1:n.371C=
ENST00000556244.1:c.234C=
ENST00000556278.1:c.252+228C= ENSP00000451792.1:n.252+228C=
ENST00000556403.5:n.266-6C=
ENST00000556494.5:n.285-6C=
ENST00000557541.5:n.446-55C=
ENST00000557706.5:n.594C=
NM_000155.3:c.253-6C= NP_000146.2:n.253-6C=
NM_001258332.1:c.50+228C= NP_001245261.1:n.50+228C=
NM_000155.4:c.253-6C= MANE Select NP_000146.2:n.253-6C=
NM_001258332.2:c.50+228C= NP_001245261.1:n.50+228C=