Canonical Allele Identifier: CA464402369

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648447C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648450C>G , CM000671.2:g.34648450C>G	GRCh38
NC_000009.11:g.34648447C>G , CM000671.1:g.34648447C>G	GRCh37
NC_000009.10:g.34638447C>G	NCBI36
NG_009029.1:g.6813C>G
NG_028966.1:g.1266C>G
NG_009029.2:g.6862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*269C>G	ENSP00000509954.1:n.*269C>G
ENST00000378842.8:c.681C>G MANE Select	ENSP00000368119.4:p.Leu227=
ENST00000378842.7:c.681C>G	ENSP00000368119.3:p.Leu227=
ENST00000450095.6:c.354C>G	ENSP00000401956.2:p.Leu118=
ENST00000472111.5:n.937C>G
ENST00000473506.6:c.*269C>G	ENSP00000432839.2:n.*269C>G
ENST00000473529.5:n.840C>G
ENST00000487381.5:n.1066C>G
ENST00000489643.6:n.456C>G
ENST00000554085.5:c.*425C>G	ENSP00000450419.1:n.*425C>G
ENST00000554550.5:c.*301C>G	ENSP00000451435.1:n.*301C>G
ENST00000554638.5:n.1153C>G
ENST00000555020.5:n.837C>G
ENST00000555086.5:n.685C>G
ENST00000555214.5:n.502C>G
ENST00000555754.1:n.26C>G
ENST00000556244.1:c.668C>G
ENST00000556278.1:c.426C>G	ENSP00000451792.1:p.Leu142=
ENST00000556494.5:n.802C>G
ENST00000557706.5:n.1243C>G
NM_000155.3:c.681C>G	NP_000146.2:p.Leu227=
NM_001258332.1:c.354C>G	NP_001245261.1:p.Leu118=
NM_000155.4:c.681C>G MANE Select	NP_000146.2:p.Leu227=
NM_001258332.2:c.354C>G	NP_001245261.1:p.Leu118=