Canonical Allele Identifier: CA373280421

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647689G>T (hg19) ; chr9:g.34647692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647692G>T , CM000671.2:g.34647692G>T	GRCh38
NC_000009.11:g.34647689G>T , CM000671.1:g.34647689G>T	GRCh37
NC_000009.10:g.34637689G>T	NCBI36
NG_009029.1:g.6055G>T
NG_028966.1:g.508G>T
NG_009029.2:g.6104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+125G>T	ENSP00000509954.1:n.328+125G>T
ENST00000378842.8:c.364G>T MANE Select	ENSP00000368119.4:p.Ala122Ser
ENST00000378842.7:c.364G>T	ENSP00000368119.3:p.Ala122Ser
ENST00000450095.6:c.51-140G>T	ENSP00000401956.2:n.51-140G>T
ENST00000465543.6:n.703G>T
ENST00000472111.5:n.494G>T
ENST00000473506.6:c.315G>T	ENSP00000432839.2:p.Leu105=
ENST00000473529.5:n.500G>T
ENST00000485531.1:n.679G>T
ENST00000487381.5:n.623G>T
ENST00000489643.6:n.283-423G>T
ENST00000554085.5:c.*108G>T	ENSP00000450419.1:n.*108G>T
ENST00000554139.5:n.417G>T
ENST00000554330.5:n.401G>T
ENST00000554550.5:c.253-140G>T	ENSP00000451435.1:n.253-140G>T
ENST00000554638.5:n.710G>T
ENST00000554897.5:c.253-140G>T	ENSP00000450942.1:n.253-140G>T
ENST00000554944.5:n.434G>T
ENST00000555020.5:n.394G>T
ENST00000555086.5:n.368G>T
ENST00000555214.5:n.262-356G>T
ENST00000556157.1:n.488G>T
ENST00000556244.1:c.351G>T
ENST00000556278.1:c.253-423G>T	ENSP00000451792.1:n.253-423G>T
ENST00000556403.5:n.466G>T
ENST00000556494.5:n.485G>T
ENST00000557541.5:n.508G>T
ENST00000557706.5:n.800G>T
NM_000155.3:c.364G>T	NP_000146.2:p.Ala122Ser
NM_001258332.1:c.51-140G>T	NP_001245261.1:n.51-140G>T
NM_000155.4:c.364G>T MANE Select	NP_000146.2:p.Ala122Ser
NM_001258332.2:c.51-140G>T	NP_001245261.1:n.51-140G>T