Canonical Allele Identifier: CA220425

Gene: GALT

Linked Data

• ClinVar Variation Id: 92523
• ClinVar RCV Id: RCV000078237 ; RCV000818066 ; RCV001271246
• dbSNP Id: rs398123186
• ExAC: 9:34648895 A / C
• gnomAD v2: 9-34648895-A-C
• gnomAD v3: 9-34648898-A-C
• gnomAD v4: 9-34648898-A-C
• MyVariant Identifiers: chr9:g.34648895A>C (hg19) ; chr9:g.34648898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648898A>C , CM000671.2:g.34648898A>C	GRCh38
NC_000009.11:g.34648895A>C , CM000671.1:g.34648895A>C	GRCh37
NC_000009.10:g.34638895A>C	NCBI36
NG_009029.1:g.7261A>C
NG_028966.1:g.1714A>C
NG_009029.2:g.7310A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+4A>C	ENSP00000509954.1:n.*408+4A>C
ENST00000378842.8:c.820+4A>C MANE Select	ENSP00000368119.4:n.820+4A>C
ENST00000378842.7:c.820+4A>C	ENSP00000368119.3:n.820+4A>C
ENST00000450095.6:c.493+4A>C	ENSP00000401956.2:n.493+4A>C
ENST00000489643.6:n.900+4A>C
ENST00000554085.5:c.*564+4A>C	ENSP00000450419.1:n.*564+4A>C
ENST00000554550.5:c.*440+4A>C	ENSP00000451435.1:n.*440+4A>C
ENST00000554638.5:n.1292+4A>C
ENST00000555020.5:n.1281+4A>C
ENST00000555086.5:n.828A>C
ENST00000555754.1:n.169A>C
ENST00000556278.1:c.432+442A>C	ENSP00000451792.1:n.432+442A>C
ENST00000557706.5:n.1386A>C
NM_000155.3:c.820+4A>C	NP_000146.2:n.820+4A>C
NM_001258332.1:c.493+4A>C	NP_001245261.1:n.493+4A>C
NM_000155.4:c.820+4A>C MANE Select	NP_000146.2:n.820+4A>C
NM_001258332.2:c.493+4A>C	NP_001245261.1:n.493+4A>C