Canonical Allele Identifier: CA1845641027
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649412G= , CM000671.2:g.34649412G= GRCh38
NC_000009.11:g.34649409G= , CM000671.1:g.34649409G= GRCh37
NC_000009.10:g.34639409G= NCBI36
NG_009029.1:g.7775G=
NG_028966.1:g.2228G=
NG_009029.2:g.7824G=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*495G= ENSP00000509954.1:n.*495G=
ENST00000378842.8:c.907G= MANE Select ENSP00000368119.4:p.Ala303=
ENST00000378842.7:c.907G= ENSP00000368119.3:p.Ala303=
ENST00000450095.6:c.580G= ENSP00000401956.2:p.Ala194=
ENST00000488412.2:n.491G=
ENST00000489643.6:n.1315G=
ENST00000554550.5:c.*527G= ENSP00000451435.1:n.*527G=
ENST00000554638.5:n.1379G=
ENST00000555020.5:n.1696G=
ENST00000555754.1:n.355G=
ENST00000556278.1:c.432+956G= ENSP00000451792.1:n.432+956G=
ENST00000557706.5:n.1482G=
NM_000155.3:c.907G= NP_000146.2:p.Ala303=
NM_001258332.1:c.580G= NP_001245261.1:p.Ala194=
NM_000155.4:c.907G= MANE Select NP_000146.2:p.Ala303=
NM_001258332.2:c.580G= NP_001245261.1:p.Ala194=