Canonical Allele Identifier: CA259337

Gene: GALT

Linked Data

• ClinVar Variation Id: 25136
• ClinVar RCV Id: RCV000022066 ; RCV000767307 ; RCV001194273 ; RCV001276262
• dbSNP Id: rs111033656
• ExAC: 9:34647200 C / T
• gnomAD v2: 9-34647200-C-T
• gnomAD v3: 9-34647203-C-T
• gnomAD v4: 9-34647203-C-T
• MyVariant Identifiers: chr9:g.34647200C>T (hg19) ; chr9:g.34647203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647203C>T , CM000671.2:g.34647203C>T	GRCh38
NC_000009.11:g.34647200C>T , CM000671.1:g.34647200C>T	GRCh37
NC_000009.10:g.34637200C>T	NCBI36
NG_009029.1:g.5566C>T
NG_028966.1:g.19C>T
NG_009029.2:g.5615C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.197C>T	ENSP00000509954.1:p.Pro66Leu
ENST00000378842.8:c.197C>T MANE Select	ENSP00000368119.4:p.Pro66Leu
ENST00000378842.7:c.197C>T	ENSP00000368119.3:p.Pro66Leu
ENST00000450095.6:c.-6C>T	ENSP00000401956.2:n.-6C>T
ENST00000465543.6:n.536C>T
ENST00000468099.2:n.237C>T
ENST00000472111.5:n.238C>T
ENST00000473506.6:c.197C>T	ENSP00000432839.2:p.Pro66Leu
ENST00000473529.5:n.244C>T
ENST00000485531.1:n.190C>T
ENST00000487381.5:n.223C>T
ENST00000489643.6:n.227C>T
ENST00000554085.5:c.197C>T	ENSP00000450419.1:p.Pro66Leu
ENST00000554139.5:n.250C>T
ENST00000554330.5:n.194C>T
ENST00000554550.5:c.197C>T	ENSP00000451435.1:p.Pro66Leu
ENST00000554638.5:n.221C>T
ENST00000554897.5:c.197C>T	ENSP00000450942.1:p.Pro66Leu
ENST00000554944.5:n.227C>T
ENST00000555020.5:n.227C>T
ENST00000555086.5:n.201C>T
ENST00000555214.5:n.206C>T
ENST00000556157.1:n.304C>T
ENST00000556244.1:c.81C>T
ENST00000556278.1:c.197C>T	ENSP00000451792.1:p.Pro66Leu
ENST00000556403.5:n.210C>T
ENST00000556494.5:n.229C>T
ENST00000557541.5:n.390C>T
ENST00000557706.5:n.311C>T
NM_000155.3:c.197C>T	NP_000146.2:p.Pro66Leu
NM_001258332.1:c.-6C>T	NP_001245261.1:n.-6C>T
NM_000155.4:c.197C>T MANE Select	NP_000146.2:p.Pro66Leu
NM_001258332.2:c.-6C>T	NP_001245261.1:n.-6C>T