Canonical Allele Identifier: CA5036230

Gene: GALT

Linked Data

• dbSNP Id: rs774306500
• ExAC: 9:34648977 G / A
• gnomAD v2: 9-34648977-G-A
• MyVariant Identifiers: chr9:g.34648977G>A (hg19) ; chr9:g.34648980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648980G>A , CM000671.2:g.34648980G>A	GRCh38
NC_000009.11:g.34648977G>A , CM000671.1:g.34648977G>A	GRCh37
NC_000009.10:g.34638977G>A	NCBI36
NG_009029.1:g.7343G>A
NG_028966.1:g.1796G>A
NG_009029.2:g.7392G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*409-18G>A	ENSP00000509954.1:n.*409-18G>A
ENST00000378842.8:c.821-18G>A MANE Select	ENSP00000368119.4:n.821-18G>A
ENST00000378842.7:c.821-18G>A	ENSP00000368119.3:n.821-18G>A
ENST00000450095.6:c.494-18G>A	ENSP00000401956.2:n.494-18G>A
ENST00000488412.2:n.59G>A
ENST00000489643.6:n.901-18G>A
ENST00000554085.5:c.*565-18G>A	ENSP00000450419.1:n.*565-18G>A
ENST00000554550.5:c.*441-18G>A	ENSP00000451435.1:n.*441-18G>A
ENST00000554638.5:n.1293-18G>A
ENST00000555020.5:n.1282-18G>A
ENST00000555086.5:n.910G>A
ENST00000555754.1:n.251G>A
ENST00000556278.1:c.432+524G>A	ENSP00000451792.1:n.432+524G>A
ENST00000557706.5:n.1396-18G>A
NM_000155.3:c.821-18G>A	NP_000146.2:n.821-18G>A
NM_001258332.1:c.494-18G>A	NP_001245261.1:n.494-18G>A
NM_000155.4:c.821-18G>A MANE Select	NP_000146.2:n.821-18G>A
NM_001258332.2:c.494-18G>A	NP_001245261.1:n.494-18G>A