Canonical Allele Identifier: CA373281868

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648344G>C (hg19) ; chr9:g.34648347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648347G>C , CM000671.2:g.34648347G>C	GRCh38
NC_000009.11:g.34648344G>C , CM000671.1:g.34648344G>C	GRCh37
NC_000009.10:g.34638344G>C	NCBI36
NG_009029.1:g.6710G>C
NG_028966.1:g.1163G>C
NG_009029.2:g.6759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*166G>C	ENSP00000509954.1:n.*166G>C
ENST00000378842.8:c.578G>C MANE Select	ENSP00000368119.4:p.Ser193Thr
ENST00000378842.7:c.578G>C	ENSP00000368119.3:p.Ser193Thr
ENST00000450095.6:c.251G>C	ENSP00000401956.2:p.Ser84Thr
ENST00000472111.5:n.834G>C
ENST00000473506.6:c.*166G>C	ENSP00000432839.2:n.*166G>C
ENST00000473529.5:n.737G>C
ENST00000485531.1:n.1172G>C
ENST00000487381.5:n.963G>C
ENST00000489643.6:n.353G>C
ENST00000554085.5:c.*322G>C	ENSP00000450419.1:n.*322G>C
ENST00000554139.5:n.824G>C
ENST00000554550.5:c.*198G>C	ENSP00000451435.1:n.*198G>C
ENST00000554638.5:n.1050G>C
ENST00000554897.5:c.*265G>C	ENSP00000450942.1:n.*265G>C
ENST00000554944.5:n.927G>C
ENST00000555020.5:n.734G>C
ENST00000555086.5:n.582G>C
ENST00000555214.5:n.399G>C
ENST00000556244.1:c.565G>C
ENST00000556278.1:c.323G>C	ENSP00000451792.1:p.Ser108Thr
ENST00000556494.5:n.699G>C
ENST00000557706.5:n.1140G>C
NM_000155.3:c.578G>C	NP_000146.2:p.Ser193Thr
NM_001258332.1:c.251G>C	NP_001245261.1:p.Ser84Thr
NM_000155.4:c.578G>C MANE Select	NP_000146.2:p.Ser193Thr
NM_001258332.2:c.251G>C	NP_001245261.1:p.Ser84Thr