Canonical Allele Identifier: CA5036186

Gene: GALT

Linked Data

• ClinVar Variation Id: 366698
• ClinVar RCV Id: RCV000588651 ; RCV000871944 ; RCV001276331
• dbSNP Id: rs117998880
• ExAC: 9:34648462 G / C
• gnomAD v2: 9-34648462-G-C
• gnomAD v3: 9-34648465-G-C
• gnomAD v4: 9-34648465-G-C
• MyVariant Identifiers: chr9:g.34648462G>C (hg19) ; chr9:g.34648465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648465G>C , CM000671.2:g.34648465G>C	GRCh38
NC_000009.11:g.34648462G>C , CM000671.1:g.34648462G>C	GRCh37
NC_000009.10:g.34638462G>C	NCBI36
NG_009029.1:g.6828G>C
NG_028966.1:g.1281G>C
NG_009029.2:g.6877G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+9G>C	ENSP00000509954.1:n.*275+9G>C
ENST00000378842.8:c.687+9G>C MANE Select	ENSP00000368119.4:n.687+9G>C
ENST00000378842.7:c.687+9G>C	ENSP00000368119.3:n.687+9G>C
ENST00000450095.6:c.360+9G>C	ENSP00000401956.2:n.360+9G>C
ENST00000472111.5:n.952G>C
ENST00000473506.6:c.*275+9G>C	ENSP00000432839.2:n.*275+9G>C
ENST00000473529.5:n.846+9G>C
ENST00000487381.5:n.1081G>C
ENST00000489643.6:n.471G>C
ENST00000554085.5:c.*431+9G>C	ENSP00000450419.1:n.*431+9G>C
ENST00000554550.5:c.*307+9G>C	ENSP00000451435.1:n.*307+9G>C
ENST00000554638.5:n.1159+9G>C
ENST00000555020.5:n.852G>C
ENST00000555086.5:n.691+9G>C
ENST00000555214.5:n.517G>C
ENST00000555754.1:n.32+9G>C
ENST00000556244.1:c.674+9G>C
ENST00000556278.1:c.432+9G>C	ENSP00000451792.1:n.432+9G>C
ENST00000556494.5:n.817G>C
ENST00000557706.5:n.1249+9G>C
NM_000155.3:c.687+9G>C	NP_000146.2:n.687+9G>C
NM_001258332.1:c.360+9G>C	NP_001245261.1:n.360+9G>C
NM_000155.4:c.687+9G>C MANE Select	NP_000146.2:n.687+9G>C
NM_001258332.2:c.360+9G>C	NP_001245261.1:n.360+9G>C