Canonical Allele Identifier: CA340106

Gene: GALT

Linked Data

• ClinVar Variation Id: 3616
• ClinVar RCV Id: RCV000003800 ; RCV000723392 ; RCV001831509
• dbSNP Id: rs111033715
• ExAC: 9:34648116 T / C
• gnomAD v2: 9-34648116-T-C
• gnomAD v3: 9-34648119-T-C
• gnomAD v4: 9-34648119-T-C
• MyVariant Identifiers: chr9:g.34648116T>C (hg19) ; chr9:g.34648119T>C (hg38)
• PubMed: PMID:1301925 ; PMID:1610789 ; PMID:8198125 ; PMID:9635294 ; PMID:10408771 ; PMID:10535394 ; PMID:10811638 ; PMID:11152465 ; PMID:11397328 ; PMID:18956253 ; PMID:20008339 ; PMID:20301691 ; PMID:22944367 ; PMID:23583749 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648119T>C , CM000671.2:g.34648119T>C	GRCh38
NC_000009.11:g.34648116T>C , CM000671.1:g.34648116T>C	GRCh37
NC_000009.10:g.34638116T>C	NCBI36
NG_009029.1:g.6482T>C
NG_028966.1:g.935T>C
NG_009029.2:g.6531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*100T>C	ENSP00000509954.1:n.*100T>C
ENST00000378842.8:c.512T>C MANE Select	ENSP00000368119.4:p.Phe171Ser
ENST00000378842.7:c.512T>C	ENSP00000368119.3:p.Phe171Ser
ENST00000450095.6:c.185T>C	ENSP00000401956.2:p.Phe62Ser
ENST00000465543.6:n.851T>C
ENST00000472111.5:n.768T>C
ENST00000473506.6:c.*100T>C	ENSP00000432839.2:n.*100T>C
ENST00000473529.5:n.671T>C
ENST00000485531.1:n.1106T>C
ENST00000487381.5:n.897T>C
ENST00000489643.6:n.287T>C
ENST00000554085.5:c.*256T>C	ENSP00000450419.1:n.*256T>C
ENST00000554139.5:n.758T>C
ENST00000554550.5:c.*132T>C	ENSP00000451435.1:n.*132T>C
ENST00000554638.5:n.984T>C
ENST00000554897.5:c.*199T>C	ENSP00000450942.1:n.*199T>C
ENST00000554944.5:n.861T>C
ENST00000555020.5:n.668T>C
ENST00000555086.5:n.516T>C
ENST00000555214.5:n.333T>C
ENST00000556244.1:c.499T>C
ENST00000556278.1:c.257T>C	ENSP00000451792.1:p.Phe86Ser
ENST00000556494.5:n.633T>C
ENST00000557706.5:n.1074T>C
NM_000155.3:c.512T>C	NP_000146.2:p.Phe171Ser
NM_001258332.1:c.185T>C	NP_001245261.1:p.Phe62Ser
NM_000155.4:c.512T>C MANE Select	NP_000146.2:p.Phe171Ser
NM_001258332.2:c.185T>C	NP_001245261.1:p.Phe62Ser