Canonical Allele Identifier: CA1845638602
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648353T= , CM000671.2:g.34648353T= GRCh38
NC_000009.11:g.34648350T= , CM000671.1:g.34648350T= GRCh37
NC_000009.10:g.34638350T= NCBI36
NG_009029.1:g.6716T=
NG_028966.1:g.1169T=
NG_009029.2:g.6765T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*172T= ENSP00000509954.1:n.*172T=
ENST00000378842.8:c.584T= MANE Select ENSP00000368119.4:p.Leu195=
ENST00000378842.7:c.584T= ENSP00000368119.3:p.Leu195=
ENST00000450095.6:c.257T= ENSP00000401956.2:p.Leu86=
ENST00000472111.5:n.840T=
ENST00000473506.6:c.*172T= ENSP00000432839.2:n.*172T=
ENST00000473529.5:n.743T=
ENST00000485531.1:n.1178T=
ENST00000487381.5:n.969T=
ENST00000489643.6:n.359T=
ENST00000554085.5:c.*328T= ENSP00000450419.1:n.*328T=
ENST00000554139.5:n.830T=
ENST00000554550.5:c.*204T= ENSP00000451435.1:n.*204T=
ENST00000554638.5:n.1056T=
ENST00000554897.5:c.*271T= ENSP00000450942.1:n.*271T=
ENST00000554944.5:n.933T=
ENST00000555020.5:n.740T=
ENST00000555086.5:n.588T=
ENST00000555214.5:n.405T=
ENST00000556244.1:c.571T=
ENST00000556278.1:c.329T= ENSP00000451792.1:p.Leu110=
ENST00000556494.5:n.705T=
ENST00000557706.5:n.1146T=
NM_000155.3:c.584T= NP_000146.2:p.Leu195=
NM_001258332.1:c.257T= NP_001245261.1:p.Leu86=
NM_000155.4:c.584T= MANE Select NP_000146.2:p.Leu195=
NM_001258332.2:c.257T= NP_001245261.1:p.Leu86=