Canonical Allele Identifier: CA1845636006
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1564100862

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647410T>C , CM000671.2:g.34647410T>C GRCh38
NC_000009.11:g.34647407T>C , CM000671.1:g.34647407T>C GRCh37
NC_000009.10:g.34637407T>C NCBI36
NG_009029.1:g.5773T>C
NG_028966.1:g.226T>C
NG_009029.2:g.5822T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.253-82T>C ENSP00000509954.1:n.253-82T>C
ENST00000378842.8:c.253-82T>C MANE Select ENSP00000368119.4:n.253-82T>C
ENST00000378842.7:c.253-82T>C ENSP00000368119.3:n.253-82T>C
ENST00000450095.6:c.50+152T>C ENSP00000401956.2:n.50+152T>C
ENST00000465543.6:n.592-82T>C
ENST00000468099.2:n.444T>C
ENST00000472111.5:n.294-82T>C
ENST00000473506.6:c.253-131T>C ENSP00000432839.2:n.253-131T>C
ENST00000473529.5:n.300-82T>C
ENST00000485531.1:n.397T>C
ENST00000487381.5:n.430T>C
ENST00000489643.6:n.282+152T>C
ENST00000554085.5:c.253-65T>C ENSP00000450419.1:n.253-65T>C
ENST00000554139.5:n.306-82T>C
ENST00000554330.5:n.250-131T>C
ENST00000554550.5:c.252+152T>C ENSP00000451435.1:n.252+152T>C
ENST00000554638.5:n.428T>C
ENST00000554897.5:c.252+152T>C ENSP00000450942.1:n.252+152T>C
ENST00000554944.5:n.283-131T>C
ENST00000555020.5:n.283-82T>C
ENST00000555086.5:n.257-82T>C
ENST00000555214.5:n.261+152T>C
ENST00000556157.1:n.360-65T>C
ENST00000556244.1:c.158T>C
ENST00000556278.1:c.252+152T>C ENSP00000451792.1:n.252+152T>C
ENST00000556403.5:n.266-82T>C
ENST00000556494.5:n.285-82T>C
ENST00000557541.5:n.446-131T>C
ENST00000557706.5:n.518T>C
NM_000155.3:c.253-82T>C NP_000146.2:n.253-82T>C
NM_001258332.1:c.50+152T>C NP_001245261.1:n.50+152T>C
NM_000155.4:c.253-82T>C MANE Select NP_000146.2:n.253-82T>C
NM_001258332.2:c.50+152T>C NP_001245261.1:n.50+152T>C