Canonical Allele Identifier: CA342595

Gene: GALT

Linked Data

• ClinVar Variation Id: 25222
• ClinVar RCV Id: RCV000022158 ; RCV000224416 ; RCV001826496
• dbSNP Id: rs111033728
• ExAC: 9:34648350 T / C
• gnomAD v2: 9-34648350-T-C
• gnomAD v3: 9-34648353-T-C
• gnomAD v4: 9-34648353-T-C
• MyVariant Identifiers: chr9:g.34648350T>C (hg19) ; chr9:g.34648353T>C (hg38)
• PubMed: PMID:1373122 ; PMID:1610789 ; PMID:8598637 ; PMID:10649501 ; PMID:10960497 ; PMID:11397328 ; PMID:15841485 ; PMID:17041746 ; PMID:19375122 ; PMID:20301691

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648353T>C , CM000671.2:g.34648353T>C	GRCh38
NC_000009.11:g.34648350T>C , CM000671.1:g.34648350T>C	GRCh37
NC_000009.10:g.34638350T>C	NCBI36
NG_009029.1:g.6716T>C
NG_028966.1:g.1169T>C
NG_009029.2:g.6765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*172T>C	ENSP00000509954.1:n.*172T>C
ENST00000378842.8:c.584T>C MANE Select	ENSP00000368119.4:p.Leu195Pro
ENST00000378842.7:c.584T>C	ENSP00000368119.3:p.Leu195Pro
ENST00000450095.6:c.257T>C	ENSP00000401956.2:p.Leu86Pro
ENST00000472111.5:n.840T>C
ENST00000473506.6:c.*172T>C	ENSP00000432839.2:n.*172T>C
ENST00000473529.5:n.743T>C
ENST00000485531.1:n.1178T>C
ENST00000487381.5:n.969T>C
ENST00000489643.6:n.359T>C
ENST00000554085.5:c.*328T>C	ENSP00000450419.1:n.*328T>C
ENST00000554139.5:n.830T>C
ENST00000554550.5:c.*204T>C	ENSP00000451435.1:n.*204T>C
ENST00000554638.5:n.1056T>C
ENST00000554897.5:c.*271T>C	ENSP00000450942.1:n.*271T>C
ENST00000554944.5:n.933T>C
ENST00000555020.5:n.740T>C
ENST00000555086.5:n.588T>C
ENST00000555214.5:n.405T>C
ENST00000556244.1:c.571T>C
ENST00000556278.1:c.329T>C	ENSP00000451792.1:p.Leu110Pro
ENST00000556494.5:n.705T>C
ENST00000557706.5:n.1146T>C
NM_000155.3:c.584T>C	NP_000146.2:p.Leu195Pro
NM_001258332.1:c.257T>C	NP_001245261.1:p.Leu86Pro
NM_000155.4:c.584T>C MANE Select	NP_000146.2:p.Leu195Pro
NM_001258332.2:c.257T>C	NP_001245261.1:p.Leu86Pro