Canonical Allele Identifier: CA2499219854

Gene: GALT

Linked Data

• ClinVar Variation Id: 1121594
• ClinVar RCV Id: RCV001451900
• dbSNP Id: rs111033768
• gnomAD v4: 9-34648907-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648907A>C , CM000671.2:g.34648907A>C	GRCh38
NC_000009.11:g.34648904A>C , CM000671.1:g.34648904A>C	GRCh37
NC_000009.10:g.34638904A>C	NCBI36
NG_009029.1:g.7270A>C
NG_028966.1:g.1723A>C
NG_009029.2:g.7319A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+13A>C	ENSP00000509954.1:n.*408+13A>C
ENST00000378842.8:c.820+13A>C MANE Select	ENSP00000368119.4:n.820+13A>C
ENST00000378842.7:c.820+13A>C	ENSP00000368119.3:n.820+13A>C
ENST00000450095.6:c.493+13A>C	ENSP00000401956.2:n.493+13A>C
ENST00000489643.6:n.900+13A>C
ENST00000554085.5:c.*564+13A>C	ENSP00000450419.1:n.*564+13A>C
ENST00000554550.5:c.*440+13A>C	ENSP00000451435.1:n.*440+13A>C
ENST00000554638.5:n.1292+13A>C
ENST00000555020.5:n.1281+13A>C
ENST00000555086.5:n.837A>C
ENST00000555754.1:n.178A>C
ENST00000556278.1:c.432+451A>C	ENSP00000451792.1:n.432+451A>C
ENST00000557706.5:n.1395A>C
NM_000155.3:c.820+13A>C	NP_000146.2:n.820+13A>C
NM_001258332.1:c.493+13A>C	NP_001245261.1:n.493+13A>C
NM_000155.4:c.820+13A>C MANE Select	NP_000146.2:n.820+13A>C
NM_001258332.2:c.493+13A>C	NP_001245261.1:n.493+13A>C