Canonical Allele Identifier: CA373282124

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648397A>T (hg19) ; chr9:g.34648400A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648400A>T , CM000671.2:g.34648400A>T	GRCh38
NC_000009.11:g.34648397A>T , CM000671.1:g.34648397A>T	GRCh37
NC_000009.10:g.34638397A>T	NCBI36
NG_009029.1:g.6763A>T
NG_028966.1:g.1216A>T
NG_009029.2:g.6812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*219A>T	ENSP00000509954.1:n.*219A>T
ENST00000378842.8:c.631A>T MANE Select	ENSP00000368119.4:p.Ser211Cys
ENST00000378842.7:c.631A>T	ENSP00000368119.3:p.Ser211Cys
ENST00000450095.6:c.304A>T	ENSP00000401956.2:p.Ser102Cys
ENST00000472111.5:n.887A>T
ENST00000473506.6:c.*219A>T	ENSP00000432839.2:n.*219A>T
ENST00000473529.5:n.790A>T
ENST00000487381.5:n.1016A>T
ENST00000489643.6:n.406A>T
ENST00000554085.5:c.*375A>T	ENSP00000450419.1:n.*375A>T
ENST00000554550.5:c.*251A>T	ENSP00000451435.1:n.*251A>T
ENST00000554638.5:n.1103A>T
ENST00000555020.5:n.787A>T
ENST00000555086.5:n.635A>T
ENST00000555214.5:n.452A>T
ENST00000556244.1:c.618A>T
ENST00000556278.1:c.376A>T	ENSP00000451792.1:p.Ser126Cys
ENST00000556494.5:n.752A>T
ENST00000557706.5:n.1193A>T
NM_000155.3:c.631A>T	NP_000146.2:p.Ser211Cys
NM_001258332.1:c.304A>T	NP_001245261.1:p.Ser102Cys
NM_000155.4:c.631A>T MANE Select	NP_000146.2:p.Ser211Cys
NM_001258332.2:c.304A>T	NP_001245261.1:p.Ser102Cys