Canonical Allele Identifier: CA220419

Gene: GALT

Linked Data

• ClinVar Variation Id: 25149
• ClinVar RCV Id: RCV000022080 ; RCV000790788
• dbSNP Id: rs111033670
• ExAC: 9:34647528 G / C
• gnomAD v3: 9-34647531-G-C
• gnomAD v4: 9-34647531-G-C
• MyVariant Identifiers: chr9:g.34647528G>C (hg19) ; chr9:g.34647531G>C (hg38)
• PubMed: PMID:1766867 ; PMID:15172000 ; PMID:20008339

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647531G>C , CM000671.2:g.34647531G>C	GRCh38
NC_000009.11:g.34647528G>C , CM000671.1:g.34647528G>C	GRCh37
NC_000009.10:g.34637528G>C	NCBI36
NG_009029.1:g.5894G>C
NG_028966.1:g.347G>C
NG_009029.2:g.5943G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.292G>C	ENSP00000509954.1:p.Asp98His
ENST00000378842.8:c.292G>C MANE Select	ENSP00000368119.4:p.Asp98His
ENST00000378842.7:c.292G>C	ENSP00000368119.3:p.Asp98His
ENST00000450095.6:c.50+273G>C	ENSP00000401956.2:n.50+273G>C
ENST00000465543.6:n.631G>C
ENST00000472111.5:n.333G>C
ENST00000473506.6:c.253-10G>C	ENSP00000432839.2:n.253-10G>C
ENST00000473529.5:n.339G>C
ENST00000485531.1:n.518G>C
ENST00000487381.5:n.551G>C
ENST00000489643.6:n.282+273G>C
ENST00000554085.5:c.*36G>C	ENSP00000450419.1:n.*36G>C
ENST00000554139.5:n.345G>C
ENST00000554330.5:n.250-10G>C
ENST00000554550.5:c.252+273G>C	ENSP00000451435.1:n.252+273G>C
ENST00000554638.5:n.549G>C
ENST00000554897.5:c.252+273G>C	ENSP00000450942.1:n.252+273G>C
ENST00000554944.5:n.283-10G>C
ENST00000555020.5:n.322G>C
ENST00000555086.5:n.296G>C
ENST00000555214.5:n.261+273G>C
ENST00000556157.1:n.416G>C
ENST00000556244.1:c.279G>C
ENST00000556278.1:c.252+273G>C	ENSP00000451792.1:n.252+273G>C
ENST00000556403.5:n.305G>C
ENST00000556494.5:n.324G>C
ENST00000557541.5:n.446-10G>C
ENST00000557706.5:n.639G>C
NM_000155.3:c.292G>C	NP_000146.2:p.Asp98His
NM_001258332.1:c.50+273G>C	NP_001245261.1:n.50+273G>C
NM_000155.4:c.292G>C MANE Select	NP_000146.2:p.Asp98His
NM_001258332.2:c.50+273G>C	NP_001245261.1:n.50+273G>C