Canonical Allele Identifier: CA373282206

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648412C>T (hg19) ; chr9:g.34648415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648415C>T , CM000671.2:g.34648415C>T	GRCh38
NC_000009.11:g.34648412C>T , CM000671.1:g.34648412C>T	GRCh37
NC_000009.10:g.34638412C>T	NCBI36
NG_009029.1:g.6778C>T
NG_028966.1:g.1231C>T
NG_009029.2:g.6827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*234C>T	ENSP00000509954.1:n.*234C>T
ENST00000378842.8:c.646C>T MANE Select	ENSP00000368119.4:p.Pro216Ser
ENST00000378842.7:c.646C>T	ENSP00000368119.3:p.Pro216Ser
ENST00000450095.6:c.319C>T	ENSP00000401956.2:p.Pro107Ser
ENST00000472111.5:n.902C>T
ENST00000473506.6:c.*234C>T	ENSP00000432839.2:n.*234C>T
ENST00000473529.5:n.805C>T
ENST00000487381.5:n.1031C>T
ENST00000489643.6:n.421C>T
ENST00000554085.5:c.*390C>T	ENSP00000450419.1:n.*390C>T
ENST00000554550.5:c.*266C>T	ENSP00000451435.1:n.*266C>T
ENST00000554638.5:n.1118C>T
ENST00000555020.5:n.802C>T
ENST00000555086.5:n.650C>T
ENST00000555214.5:n.467C>T
ENST00000556244.1:c.633C>T
ENST00000556278.1:c.391C>T	ENSP00000451792.1:p.Pro131Ser
ENST00000556494.5:n.767C>T
ENST00000557706.5:n.1208C>T
NM_000155.3:c.646C>T	NP_000146.2:p.Pro216Ser
NM_001258332.1:c.319C>T	NP_001245261.1:p.Pro107Ser
NM_000155.4:c.646C>T MANE Select	NP_000146.2:p.Pro216Ser
NM_001258332.2:c.319C>T	NP_001245261.1:p.Pro107Ser