Canonical Allele Identifier: CA464402370

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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