Canonical Allele Identifier: CA5036245

Gene: GALT

Linked Data

• dbSNP Id: rs772962418
• ExAC: 9:34649118 T / C
• gnomAD v2: 9-34649118-T-C
• gnomAD v4: 9-34649121-T-C
• MyVariant Identifiers: chr9:g.34649118T>C (hg19) ; chr9:g.34649121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649121T>C , CM000671.2:g.34649121T>C	GRCh38
NC_000009.11:g.34649118T>C , CM000671.1:g.34649118T>C	GRCh37
NC_000009.10:g.34639118T>C	NCBI36
NG_009029.1:g.7484T>C
NG_028966.1:g.1937T>C
NG_009029.2:g.7533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*492+40T>C	ENSP00000509954.1:n.*492+40T>C
ENST00000378842.8:c.904+40T>C MANE Select	ENSP00000368119.4:n.904+40T>C
ENST00000378842.7:c.904+40T>C	ENSP00000368119.3:n.904+40T>C
ENST00000450095.6:c.577+40T>C	ENSP00000401956.2:n.577+40T>C
ENST00000488412.2:n.200T>C
ENST00000489643.6:n.1024T>C
ENST00000554550.5:c.*524+40T>C	ENSP00000451435.1:n.*524+40T>C
ENST00000554638.5:n.1376+40T>C
ENST00000555020.5:n.1405T>C
ENST00000555086.5:n.1051T>C
ENST00000555754.1:n.352+40T>C
ENST00000556278.1:c.432+665T>C	ENSP00000451792.1:n.432+665T>C
ENST00000557706.5:n.1479+40T>C
NM_000155.3:c.904+40T>C	NP_000146.2:n.904+40T>C
NM_001258332.1:c.577+40T>C	NP_001245261.1:n.577+40T>C
NM_000155.4:c.904+40T>C MANE Select	NP_000146.2:n.904+40T>C
NM_001258332.2:c.577+40T>C	NP_001245261.1:n.577+40T>C