Canonical Allele Identifier: CA373279252
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647532A>G , CM000671.2:g.34647532A>G GRCh38
NC_000009.11:g.34647529A>G , CM000671.1:g.34647529A>G GRCh37
NC_000009.10:g.34637529A>G NCBI36
NG_009029.1:g.5895A>G
NG_028966.1:g.348A>G
NG_009029.2:g.5944A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.293A>G ENSP00000509954.1:p.Asp98Gly
ENST00000378842.8:c.293A>G MANE Select ENSP00000368119.4:p.Asp98Gly
ENST00000378842.7:c.293A>G ENSP00000368119.3:p.Asp98Gly
ENST00000450095.6:c.50+274A>G ENSP00000401956.2:n.50+274A>G
ENST00000465543.6:n.632A>G
ENST00000472111.5:n.334A>G
ENST00000473506.6:c.253-9A>G ENSP00000432839.2:n.253-9A>G
ENST00000473529.5:n.340A>G
ENST00000485531.1:n.519A>G
ENST00000487381.5:n.552A>G
ENST00000489643.6:n.282+274A>G
ENST00000554085.5:c.*37A>G ENSP00000450419.1:n.*37A>G
ENST00000554139.5:n.346A>G
ENST00000554330.5:n.250-9A>G
ENST00000554550.5:c.252+274A>G ENSP00000451435.1:n.252+274A>G
ENST00000554638.5:n.550A>G
ENST00000554897.5:c.252+274A>G ENSP00000450942.1:n.252+274A>G
ENST00000554944.5:n.283-9A>G
ENST00000555020.5:n.323A>G
ENST00000555086.5:n.297A>G
ENST00000555214.5:n.261+274A>G
ENST00000556157.1:n.417A>G
ENST00000556244.1:c.280A>G
ENST00000556278.1:c.252+274A>G ENSP00000451792.1:n.252+274A>G
ENST00000556403.5:n.306A>G
ENST00000556494.5:n.325A>G
ENST00000557541.5:n.446-9A>G
ENST00000557706.5:n.640A>G
NM_000155.3:c.293A>G NP_000146.2:p.Asp98Gly
NM_001258332.1:c.50+274A>G NP_001245261.1:n.50+274A>G
NM_000155.4:c.293A>G MANE Select NP_000146.2:p.Asp98Gly
NM_001258332.2:c.50+274A>G NP_001245261.1:n.50+274A>G