Canonical Allele Identifier: CA373282137

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648400C>A (hg19) ; chr9:g.34648403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648403C>A , CM000671.2:g.34648403C>A	GRCh38
NC_000009.11:g.34648400C>A , CM000671.1:g.34648400C>A	GRCh37
NC_000009.10:g.34638400C>A	NCBI36
NG_009029.1:g.6766C>A
NG_028966.1:g.1219C>A
NG_009029.2:g.6815C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*222C>A	ENSP00000509954.1:n.*222C>A
ENST00000378842.8:c.634C>A MANE Select	ENSP00000368119.4:p.Gln212Lys
ENST00000378842.7:c.634C>A	ENSP00000368119.3:p.Gln212Lys
ENST00000450095.6:c.307C>A	ENSP00000401956.2:p.Gln103Lys
ENST00000472111.5:n.890C>A
ENST00000473506.6:c.*222C>A	ENSP00000432839.2:n.*222C>A
ENST00000473529.5:n.793C>A
ENST00000487381.5:n.1019C>A
ENST00000489643.6:n.409C>A
ENST00000554085.5:c.*378C>A	ENSP00000450419.1:n.*378C>A
ENST00000554550.5:c.*254C>A	ENSP00000451435.1:n.*254C>A
ENST00000554638.5:n.1106C>A
ENST00000555020.5:n.790C>A
ENST00000555086.5:n.638C>A
ENST00000555214.5:n.455C>A
ENST00000556244.1:c.621C>A
ENST00000556278.1:c.379C>A	ENSP00000451792.1:p.Gln127Lys
ENST00000556494.5:n.755C>A
ENST00000557706.5:n.1196C>A
NM_000155.3:c.634C>A	NP_000146.2:p.Gln212Lys
NM_001258332.1:c.307C>A	NP_001245261.1:p.Gln103Lys
NM_000155.4:c.634C>A MANE Select	NP_000146.2:p.Gln212Lys
NM_001258332.2:c.307C>A	NP_001245261.1:p.Gln103Lys