Canonical Allele Identifier: CA373280571

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647838G>C (hg19) ; chr9:g.34647841G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647841G>C , CM000671.2:g.34647841G>C	GRCh38
NC_000009.11:g.34647838G>C , CM000671.1:g.34647838G>C	GRCh37
NC_000009.10:g.34637838G>C	NCBI36
NG_009029.1:g.6204G>C
NG_028966.1:g.657G>C
NG_009029.2:g.6253G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.338G>C	ENSP00000509954.1:p.Cys113Ser
ENST00000378842.8:c.387G>C MANE Select	ENSP00000368119.4:p.Met129Ile
ENST00000378842.7:c.387G>C	ENSP00000368119.3:p.Met129Ile
ENST00000450095.6:c.60G>C	ENSP00000401956.2:p.Met20Ile
ENST00000465543.6:n.726G>C
ENST00000472111.5:n.643G>C
ENST00000473506.6:c.338G>C	ENSP00000432839.2:p.Cys113Ser
ENST00000473529.5:n.523G>C
ENST00000485531.1:n.828G>C
ENST00000487381.5:n.772G>C
ENST00000489643.6:n.283-274G>C
ENST00000554085.5:c.*131G>C	ENSP00000450419.1:n.*131G>C
ENST00000554139.5:n.566G>C
ENST00000554330.5:n.550G>C
ENST00000554550.5:c.*7G>C	ENSP00000451435.1:n.*7G>C
ENST00000554638.5:n.859G>C
ENST00000554897.5:c.*7G>C	ENSP00000450942.1:n.*7G>C
ENST00000554944.5:n.583G>C
ENST00000555020.5:n.543G>C
ENST00000555086.5:n.391G>C
ENST00000555214.5:n.262-207G>C
ENST00000556244.1:c.374G>C
ENST00000556278.1:c.253-274G>C	ENSP00000451792.1:n.253-274G>C
ENST00000556494.5:n.508G>C
ENST00000557541.5:n.531G>C
ENST00000557706.5:n.949G>C
NM_000155.3:c.387G>C	NP_000146.2:p.Met129Ile
NM_001258332.1:c.60G>C	NP_001245261.1:p.Met20Ile
NM_000155.4:c.387G>C MANE Select	NP_000146.2:p.Met129Ile
NM_001258332.2:c.60G>C	NP_001245261.1:p.Met20Ile