Canonical Allele Identifier: CA373278720

Gene: GALT

Linked Data

• dbSNP Id: rs1317678108
• gnomAD v4: 9-34647202-C-T
• MyVariant Identifiers: chr9:g.34647199C>T (hg19) ; chr9:g.34647202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647202C>T , CM000671.2:g.34647202C>T	GRCh38
NC_000009.11:g.34647199C>T , CM000671.1:g.34647199C>T	GRCh37
NC_000009.10:g.34637199C>T	NCBI36
NG_009029.1:g.5565C>T
NG_028966.1:g.18C>T
NG_009029.2:g.5614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.196C>T	ENSP00000509954.1:p.Pro66Ser
ENST00000378842.8:c.196C>T MANE Select	ENSP00000368119.4:p.Pro66Ser
ENST00000378842.7:c.196C>T	ENSP00000368119.3:p.Pro66Ser
ENST00000450095.6:c.-7C>T	ENSP00000401956.2:n.-7C>T
ENST00000465543.6:n.535C>T
ENST00000468099.2:n.236C>T
ENST00000472111.5:n.237C>T
ENST00000473506.6:c.196C>T	ENSP00000432839.2:p.Pro66Ser
ENST00000473529.5:n.243C>T
ENST00000485531.1:n.189C>T
ENST00000487381.5:n.222C>T
ENST00000489643.6:n.226C>T
ENST00000554085.5:c.196C>T	ENSP00000450419.1:p.Pro66Ser
ENST00000554139.5:n.249C>T
ENST00000554330.5:n.193C>T
ENST00000554550.5:c.196C>T	ENSP00000451435.1:p.Pro66Ser
ENST00000554638.5:n.220C>T
ENST00000554897.5:c.196C>T	ENSP00000450942.1:p.Pro66Ser
ENST00000554944.5:n.226C>T
ENST00000555020.5:n.226C>T
ENST00000555086.5:n.200C>T
ENST00000555214.5:n.205C>T
ENST00000556157.1:n.303C>T
ENST00000556244.1:c.80C>T
ENST00000556278.1:c.196C>T	ENSP00000451792.1:p.Pro66Ser
ENST00000556403.5:n.209C>T
ENST00000556494.5:n.228C>T
ENST00000557541.5:n.389C>T
ENST00000557706.5:n.310C>T
NM_000155.3:c.196C>T	NP_000146.2:p.Pro66Ser
NM_001258332.1:c.-7C>T	NP_001245261.1:n.-7C>T
NM_000155.4:c.196C>T MANE Select	NP_000146.2:p.Pro66Ser
NM_001258332.2:c.-7C>T	NP_001245261.1:n.-7C>T