Canonical Allele Identifier: CA373280578

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647839T>C (hg19) ; chr9:g.34647842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647842T>C , CM000671.2:g.34647842T>C	GRCh38
NC_000009.11:g.34647839T>C , CM000671.1:g.34647839T>C	GRCh37
NC_000009.10:g.34637839T>C	NCBI36
NG_009029.1:g.6205T>C
NG_028966.1:g.658T>C
NG_009029.2:g.6254T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.339T>C	ENSP00000509954.1:p.Cys113=
ENST00000378842.8:c.388T>C MANE Select	ENSP00000368119.4:p.Cys130Arg
ENST00000378842.7:c.388T>C	ENSP00000368119.3:p.Cys130Arg
ENST00000450095.6:c.61T>C	ENSP00000401956.2:p.Cys21Arg
ENST00000465543.6:n.727T>C
ENST00000472111.5:n.644T>C
ENST00000473506.6:c.339T>C	ENSP00000432839.2:p.Cys113=
ENST00000473529.5:n.524T>C
ENST00000485531.1:n.829T>C
ENST00000487381.5:n.773T>C
ENST00000489643.6:n.283-273T>C
ENST00000554085.5:c.*132T>C	ENSP00000450419.1:n.*132T>C
ENST00000554139.5:n.567T>C
ENST00000554330.5:n.551T>C
ENST00000554550.5:c.*8T>C	ENSP00000451435.1:n.*8T>C
ENST00000554638.5:n.860T>C
ENST00000554897.5:c.*8T>C	ENSP00000450942.1:n.*8T>C
ENST00000554944.5:n.584T>C
ENST00000555020.5:n.544T>C
ENST00000555086.5:n.392T>C
ENST00000555214.5:n.262-206T>C
ENST00000556244.1:c.375T>C
ENST00000556278.1:c.253-273T>C	ENSP00000451792.1:n.253-273T>C
ENST00000556494.5:n.509T>C
ENST00000557541.5:n.532T>C
ENST00000557706.5:n.950T>C
NM_000155.3:c.388T>C	NP_000146.2:p.Cys130Arg
NM_001258332.1:c.61T>C	NP_001245261.1:p.Cys21Arg
NM_000155.4:c.388T>C MANE Select	NP_000146.2:p.Cys130Arg
NM_001258332.2:c.61T>C	NP_001245261.1:p.Cys21Arg