Canonical Allele Identifier: CA373284845

Gene: GALT

Linked Data

• ClinVar Variation Id: 1955481
• ClinVar RCV Id: RCV002695422
• MyVariant Identifiers: chr9:g.34649452A>C (hg19) ; chr9:g.34649455A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649455A>C , CM000671.2:g.34649455A>C	GRCh38
NC_000009.11:g.34649452A>C , CM000671.1:g.34649452A>C	GRCh37
NC_000009.10:g.34639452A>C	NCBI36
NG_009029.1:g.7818A>C
NG_028966.1:g.2271A>C
NG_009029.2:g.7867A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*538A>C	ENSP00000509954.1:n.*538A>C
ENST00000378842.8:c.950A>C MANE Select	ENSP00000368119.4:p.Gln317Pro
ENST00000378842.7:c.950A>C	ENSP00000368119.3:p.Gln317Pro
ENST00000450095.6:c.623A>C	ENSP00000401956.2:p.Gln208Pro
ENST00000488412.2:n.534A>C
ENST00000489643.6:n.1358A>C
ENST00000554550.5:c.*570A>C	ENSP00000451435.1:n.*570A>C
ENST00000554638.5:n.1422A>C
ENST00000555020.5:n.1739A>C
ENST00000555754.1:n.398A>C
ENST00000556278.1:c.432+999A>C	ENSP00000451792.1:n.432+999A>C
ENST00000557706.5:n.1525A>C
NM_000155.3:c.950A>C	NP_000146.2:p.Gln317Pro
NM_001258332.1:c.623A>C	NP_001245261.1:p.Gln208Pro
NM_000155.4:c.950A>C MANE Select	NP_000146.2:p.Gln317Pro
NM_001258332.2:c.623A>C	NP_001245261.1:p.Gln208Pro