Canonical Allele Identifier: CA259557
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033832
MyVariant Identifiers: chr9:g.34649482T>C (hg19) chr9:g.34649485T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649485T>C , CM000671.2:g.34649485T>C GRCh38
NC_000009.11:g.34649482T>C , CM000671.1:g.34649482T>C GRCh37
NC_000009.10:g.34639482T>C NCBI36
NG_009029.1:g.7848T>C
NG_028966.1:g.2301T>C
NG_009029.2:g.7897T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*568T>C ENSP00000509954.1:n.*568T>C
ENST00000378842.8:c.980T>C MANE Select ENSP00000368119.4:p.Leu327Pro
ENST00000378842.7:c.980T>C ENSP00000368119.3:p.Leu327Pro
ENST00000450095.6:c.653T>C ENSP00000401956.2:p.Leu218Pro
ENST00000488412.2:n.564T>C
ENST00000489643.6:n.1388T>C
ENST00000554550.5:c.*600T>C ENSP00000451435.1:n.*600T>C
ENST00000554638.5:n.1452T>C
ENST00000555020.5:n.1769T>C
ENST00000555754.1:n.428T>C
ENST00000556278.1:c.432+1029T>C ENSP00000451792.1:n.432+1029T>C
ENST00000557706.5:n.1555T>C
NM_000155.3:c.980T>C NP_000146.2:p.Leu327Pro
NM_001258332.1:c.653T>C NP_001245261.1:p.Leu218Pro
NM_000155.4:c.980T>C MANE Select NP_000146.2:p.Leu327Pro
NM_001258332.2:c.653T>C NP_001245261.1:p.Leu218Pro
Search 100 bp 5'
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