Canonical Allele Identifier: CA373283820

Gene: GALT

Linked Data

• ClinVar Variation Id: 633238
• ClinVar RCV Id: RCV000781407 ; RCV001347764 ; RCV001825535
• dbSNP Id: rs1564101859
• MyVariant Identifiers: chr9:g.34648825C>A (hg19) ; chr9:g.34648828C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648828C>A , CM000671.2:g.34648828C>A	GRCh38
NC_000009.11:g.34648825C>A , CM000671.1:g.34648825C>A	GRCh37
NC_000009.10:g.34638825C>A	NCBI36
NG_009029.1:g.7191C>A
NG_028966.1:g.1644C>A
NG_009029.2:g.7240C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*342C>A	ENSP00000509954.1:n.*342C>A
ENST00000378842.8:c.754C>A MANE Select	ENSP00000368119.4:p.Gln252Lys
ENST00000378842.7:c.754C>A	ENSP00000368119.3:p.Gln252Lys
ENST00000450095.6:c.427C>A	ENSP00000401956.2:p.Gln143Lys
ENST00000473506.6:c.*342C>A	ENSP00000432839.2:n.*342C>A
ENST00000473529.5:n.913C>A
ENST00000489643.6:n.834C>A
ENST00000554085.5:c.*498C>A	ENSP00000450419.1:n.*498C>A
ENST00000554550.5:c.*374C>A	ENSP00000451435.1:n.*374C>A
ENST00000554638.5:n.1226C>A
ENST00000555020.5:n.1215C>A
ENST00000555086.5:n.758C>A
ENST00000555754.1:n.99C>A
ENST00000556244.1:c.741C>A
ENST00000556278.1:c.432+372C>A	ENSP00000451792.1:n.432+372C>A
ENST00000557706.5:n.1316C>A
NM_000155.3:c.754C>A	NP_000146.2:p.Gln252Lys
NM_001258332.1:c.427C>A	NP_001245261.1:p.Gln143Lys
NM_000155.4:c.754C>A MANE Select	NP_000146.2:p.Gln252Lys
NM_001258332.2:c.427C>A	NP_001245261.1:p.Gln143Lys