Canonical Allele Identifier: CA373280290
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647665G>C , CM000671.2:g.34647665G>C GRCh38
NC_000009.11:g.34647662G>C , CM000671.1:g.34647662G>C GRCh37
NC_000009.10:g.34637662G>C NCBI36
NG_009029.1:g.6028G>C
NG_028966.1:g.481G>C
NG_009029.2:g.6077G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+98G>C ENSP00000509954.1:n.328+98G>C
ENST00000378842.8:c.337G>C MANE Select ENSP00000368119.4:p.Asp113His
ENST00000378842.7:c.337G>C ENSP00000368119.3:p.Asp113His
ENST00000450095.6:c.51-167G>C ENSP00000401956.2:n.51-167G>C
ENST00000465543.6:n.676G>C
ENST00000472111.5:n.467G>C
ENST00000473506.6:c.288G>C ENSP00000432839.2:p.Val96=
ENST00000473529.5:n.473G>C
ENST00000485531.1:n.652G>C
ENST00000487381.5:n.596G>C
ENST00000489643.6:n.282+407G>C
ENST00000554085.5:c.*81G>C ENSP00000450419.1:n.*81G>C
ENST00000554139.5:n.390G>C
ENST00000554330.5:n.374G>C
ENST00000554550.5:c.253-167G>C ENSP00000451435.1:n.253-167G>C
ENST00000554638.5:n.683G>C
ENST00000554897.5:c.253-167G>C ENSP00000450942.1:n.253-167G>C
ENST00000554944.5:n.407G>C
ENST00000555020.5:n.367G>C
ENST00000555086.5:n.341G>C
ENST00000555214.5:n.262-383G>C
ENST00000556157.1:n.461G>C
ENST00000556244.1:c.324G>C
ENST00000556278.1:c.252+407G>C ENSP00000451792.1:n.252+407G>C
ENST00000556403.5:n.439G>C
ENST00000556494.5:n.458G>C
ENST00000557541.5:n.481G>C
ENST00000557706.5:n.773G>C
NM_000155.3:c.337G>C NP_000146.2:p.Asp113His
NM_001258332.1:c.51-167G>C NP_001245261.1:n.51-167G>C
NM_000155.4:c.337G>C MANE Select NP_000146.2:p.Asp113His
NM_001258332.2:c.51-167G>C NP_001245261.1:n.51-167G>C