Canonical Allele Identifier: CA373279259
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647534T>G , CM000671.2:g.34647534T>G GRCh38
NC_000009.11:g.34647531T>G , CM000671.1:g.34647531T>G GRCh37
NC_000009.10:g.34637531T>G NCBI36
NG_009029.1:g.5897T>G
NG_028966.1:g.350T>G
NG_009029.2:g.5946T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.295T>G ENSP00000509954.1:p.Phe99Val
ENST00000378842.8:c.295T>G MANE Select ENSP00000368119.4:p.Phe99Val
ENST00000378842.7:c.295T>G ENSP00000368119.3:p.Phe99Val
ENST00000450095.6:c.50+276T>G ENSP00000401956.2:n.50+276T>G
ENST00000465543.6:n.634T>G
ENST00000472111.5:n.336T>G
ENST00000473506.6:c.253-7T>G ENSP00000432839.2:n.253-7T>G
ENST00000473529.5:n.342T>G
ENST00000485531.1:n.521T>G
ENST00000487381.5:n.554T>G
ENST00000489643.6:n.282+276T>G
ENST00000554085.5:c.*39T>G ENSP00000450419.1:n.*39T>G
ENST00000554139.5:n.348T>G
ENST00000554330.5:n.250-7T>G
ENST00000554550.5:c.252+276T>G ENSP00000451435.1:n.252+276T>G
ENST00000554638.5:n.552T>G
ENST00000554897.5:c.252+276T>G ENSP00000450942.1:n.252+276T>G
ENST00000554944.5:n.283-7T>G
ENST00000555020.5:n.325T>G
ENST00000555086.5:n.299T>G
ENST00000555214.5:n.261+276T>G
ENST00000556157.1:n.419T>G
ENST00000556244.1:c.282T>G
ENST00000556278.1:c.252+276T>G ENSP00000451792.1:n.252+276T>G
ENST00000556403.5:n.308T>G
ENST00000556494.5:n.327T>G
ENST00000557541.5:n.446-7T>G
ENST00000557706.5:n.642T>G
NM_000155.3:c.295T>G NP_000146.2:p.Phe99Val
NM_001258332.1:c.50+276T>G NP_001245261.1:n.50+276T>G
NM_000155.4:c.295T>G MANE Select NP_000146.2:p.Phe99Val
NM_001258332.2:c.50+276T>G NP_001245261.1:n.50+276T>G