Canonical Allele Identifier: CA5036219

Gene: GALT

Linked Data

• dbSNP Id: rs779492469
• ExAC: 9:34648890 T / C
• gnomAD v2: 9-34648890-T-C
• gnomAD v4: 9-34648893-T-C
• MyVariant Identifiers: chr9:g.34648890T>C (hg19) ; chr9:g.34648893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648893T>C , CM000671.2:g.34648893T>C	GRCh38
NC_000009.11:g.34648890T>C , CM000671.1:g.34648890T>C	GRCh37
NC_000009.10:g.34638890T>C	NCBI36
NG_009029.1:g.7256T>C
NG_028966.1:g.1709T>C
NG_009029.2:g.7305T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*407T>C	ENSP00000509954.1:n.*407T>C
ENST00000378842.8:c.819T>C MANE Select	ENSP00000368119.4:p.Asp273=
ENST00000378842.7:c.819T>C	ENSP00000368119.3:p.Asp273=
ENST00000450095.6:c.492T>C	ENSP00000401956.2:p.Asp164=
ENST00000473506.6:c.*407T>C	ENSP00000432839.2:n.*407T>C
ENST00000489643.6:n.899T>C
ENST00000554085.5:c.*563T>C	ENSP00000450419.1:n.*563T>C
ENST00000554550.5:c.*439T>C	ENSP00000451435.1:n.*439T>C
ENST00000554638.5:n.1291T>C
ENST00000555020.5:n.1280T>C
ENST00000555086.5:n.823T>C
ENST00000555754.1:n.164T>C
ENST00000556244.1:c.806T>C
ENST00000556278.1:c.432+437T>C	ENSP00000451792.1:n.432+437T>C
ENST00000557706.5:n.1381T>C
NM_000155.3:c.819T>C	NP_000146.2:p.Asp273=
NM_001258332.1:c.492T>C	NP_001245261.1:p.Asp164=
NM_000155.4:c.819T>C MANE Select	NP_000146.2:p.Asp273=
NM_001258332.2:c.492T>C	NP_001245261.1:p.Asp164=