Canonical Allele Identifier: CA1845636403
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821138717

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647624T>C , CM000671.2:g.34647624T>C GRCh38
NC_000009.11:g.34647621T>C , CM000671.1:g.34647621T>C GRCh37
NC_000009.10:g.34637621T>C NCBI36
NG_009029.1:g.5987T>C
NG_028966.1:g.440T>C
NG_009029.2:g.6036T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+57T>C ENSP00000509954.1:n.328+57T>C
ENST00000378842.8:c.329-33T>C MANE Select ENSP00000368119.4:n.329-33T>C
ENST00000378842.7:c.329-33T>C ENSP00000368119.3:n.329-33T>C
ENST00000450095.6:c.51-208T>C ENSP00000401956.2:n.51-208T>C
ENST00000465543.6:n.668-33T>C
ENST00000472111.5:n.426T>C
ENST00000473506.6:c.280-33T>C ENSP00000432839.2:n.280-33T>C
ENST00000473529.5:n.432T>C
ENST00000485531.1:n.611T>C
ENST00000487381.5:n.588-33T>C
ENST00000489643.6:n.282+366T>C
ENST00000554085.5:c.*73-33T>C ENSP00000450419.1:n.*73-33T>C
ENST00000554139.5:n.382-33T>C
ENST00000554330.5:n.333T>C
ENST00000554550.5:c.253-208T>C ENSP00000451435.1:n.253-208T>C
ENST00000554638.5:n.642T>C
ENST00000554897.5:c.253-208T>C ENSP00000450942.1:n.253-208T>C
ENST00000554944.5:n.366T>C
ENST00000555020.5:n.359-33T>C
ENST00000555086.5:n.333-33T>C
ENST00000555214.5:n.261+366T>C
ENST00000556157.1:n.453-33T>C
ENST00000556244.1:c.316-33T>C
ENST00000556278.1:c.252+366T>C ENSP00000451792.1:n.252+366T>C
ENST00000556403.5:n.398T>C
ENST00000556494.5:n.417T>C
ENST00000557541.5:n.473-33T>C
ENST00000557706.5:n.732T>C
NM_000155.3:c.329-33T>C NP_000146.2:n.329-33T>C
NM_001258332.1:c.51-208T>C NP_001245261.1:n.51-208T>C
NM_000155.4:c.329-33T>C MANE Select NP_000146.2:n.329-33T>C
NM_001258332.2:c.51-208T>C NP_001245261.1:n.51-208T>C