Canonical Allele Identifier: CA373282375

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648445C>G (hg19) ; chr9:g.34648448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648448C>G , CM000671.2:g.34648448C>G	GRCh38
NC_000009.11:g.34648445C>G , CM000671.1:g.34648445C>G	GRCh37
NC_000009.10:g.34638445C>G	NCBI36
NG_009029.1:g.6811C>G
NG_028966.1:g.1264C>G
NG_009029.2:g.6860C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*267C>G	ENSP00000509954.1:n.*267C>G
ENST00000378842.8:c.679C>G MANE Select	ENSP00000368119.4:p.Leu227Val
ENST00000378842.7:c.679C>G	ENSP00000368119.3:p.Leu227Val
ENST00000450095.6:c.352C>G	ENSP00000401956.2:p.Leu118Val
ENST00000472111.5:n.935C>G
ENST00000473506.6:c.*267C>G	ENSP00000432839.2:n.*267C>G
ENST00000473529.5:n.838C>G
ENST00000487381.5:n.1064C>G
ENST00000489643.6:n.454C>G
ENST00000554085.5:c.*423C>G	ENSP00000450419.1:n.*423C>G
ENST00000554550.5:c.*299C>G	ENSP00000451435.1:n.*299C>G
ENST00000554638.5:n.1151C>G
ENST00000555020.5:n.835C>G
ENST00000555086.5:n.683C>G
ENST00000555214.5:n.500C>G
ENST00000555754.1:n.24C>G
ENST00000556244.1:c.666C>G
ENST00000556278.1:c.424C>G	ENSP00000451792.1:p.Leu142Val
ENST00000556494.5:n.800C>G
ENST00000557706.5:n.1241C>G
NM_000155.3:c.679C>G	NP_000146.2:p.Leu227Val
NM_001258332.1:c.352C>G	NP_001245261.1:p.Leu118Val
NM_000155.4:c.679C>G MANE Select	NP_000146.2:p.Leu227Val
NM_001258332.2:c.352C>G	NP_001245261.1:p.Leu118Val