Canonical Allele Identifier: CA373280293
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647666A>C , CM000671.2:g.34647666A>C GRCh38
NC_000009.11:g.34647663A>C , CM000671.1:g.34647663A>C GRCh37
NC_000009.10:g.34637663A>C NCBI36
NG_009029.1:g.6029A>C
NG_028966.1:g.482A>C
NG_009029.2:g.6078A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+99A>C ENSP00000509954.1:n.328+99A>C
ENST00000378842.8:c.338A>C MANE Select ENSP00000368119.4:p.Asp113Ala
ENST00000378842.7:c.338A>C ENSP00000368119.3:p.Asp113Ala
ENST00000450095.6:c.51-166A>C ENSP00000401956.2:n.51-166A>C
ENST00000465543.6:n.677A>C
ENST00000472111.5:n.468A>C
ENST00000473506.6:c.289A>C ENSP00000432839.2:p.Ile97Leu
ENST00000473529.5:n.474A>C
ENST00000485531.1:n.653A>C
ENST00000487381.5:n.597A>C
ENST00000489643.6:n.282+408A>C
ENST00000554085.5:c.*82A>C ENSP00000450419.1:n.*82A>C
ENST00000554139.5:n.391A>C
ENST00000554330.5:n.375A>C
ENST00000554550.5:c.253-166A>C ENSP00000451435.1:n.253-166A>C
ENST00000554638.5:n.684A>C
ENST00000554897.5:c.253-166A>C ENSP00000450942.1:n.253-166A>C
ENST00000554944.5:n.408A>C
ENST00000555020.5:n.368A>C
ENST00000555086.5:n.342A>C
ENST00000555214.5:n.262-382A>C
ENST00000556157.1:n.462A>C
ENST00000556244.1:c.325A>C
ENST00000556278.1:c.252+408A>C ENSP00000451792.1:n.252+408A>C
ENST00000556403.5:n.440A>C
ENST00000556494.5:n.459A>C
ENST00000557541.5:n.482A>C
ENST00000557706.5:n.774A>C
NM_000155.3:c.338A>C NP_000146.2:p.Asp113Ala
NM_001258332.1:c.51-166A>C NP_001245261.1:n.51-166A>C
NM_000155.4:c.338A>C MANE Select NP_000146.2:p.Asp113Ala
NM_001258332.2:c.51-166A>C NP_001245261.1:n.51-166A>C