Canonical Allele Identifier: CA373282295

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648430A>T (hg19) ; chr9:g.34648433A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648433A>T , CM000671.2:g.34648433A>T	GRCh38
NC_000009.11:g.34648430A>T , CM000671.1:g.34648430A>T	GRCh37
NC_000009.10:g.34638430A>T	NCBI36
NG_009029.1:g.6796A>T
NG_028966.1:g.1249A>T
NG_009029.2:g.6845A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*252A>T	ENSP00000509954.1:n.*252A>T
ENST00000378842.8:c.664A>T MANE Select	ENSP00000368119.4:p.Ser222Cys
ENST00000378842.7:c.664A>T	ENSP00000368119.3:p.Ser222Cys
ENST00000450095.6:c.337A>T	ENSP00000401956.2:p.Ser113Cys
ENST00000472111.5:n.920A>T
ENST00000473506.6:c.*252A>T	ENSP00000432839.2:n.*252A>T
ENST00000473529.5:n.823A>T
ENST00000487381.5:n.1049A>T
ENST00000489643.6:n.439A>T
ENST00000554085.5:c.*408A>T	ENSP00000450419.1:n.*408A>T
ENST00000554550.5:c.*284A>T	ENSP00000451435.1:n.*284A>T
ENST00000554638.5:n.1136A>T
ENST00000555020.5:n.820A>T
ENST00000555086.5:n.668A>T
ENST00000555214.5:n.485A>T
ENST00000555754.1:n.9A>T
ENST00000556244.1:c.651A>T
ENST00000556278.1:c.409A>T	ENSP00000451792.1:p.Ser137Cys
ENST00000556494.5:n.785A>T
ENST00000557706.5:n.1226A>T
NM_000155.3:c.664A>T	NP_000146.2:p.Ser222Cys
NM_001258332.1:c.337A>T	NP_001245261.1:p.Ser113Cys
NM_000155.4:c.664A>T MANE Select	NP_000146.2:p.Ser222Cys
NM_001258332.2:c.337A>T	NP_001245261.1:p.Ser113Cys