Canonical Allele Identifier: CA464403303

Gene: GALT

Linked Data

• ClinVar Variation Id: 3020025
• ClinVar RCV Id: RCV003877200
• dbSNP Id: rs1412238891
• gnomAD v2: 9-34648875-C-T
• gnomAD v3: 9-34648878-C-T
• gnomAD v4: 9-34648878-C-T
• MyVariant Identifiers: chr9:g.34648875C>T (hg19) ; chr9:g.34648878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648878C>T , CM000671.2:g.34648878C>T	GRCh38
NC_000009.11:g.34648875C>T , CM000671.1:g.34648875C>T	GRCh37
NC_000009.10:g.34638875C>T	NCBI36
NG_009029.1:g.7241C>T
NG_028966.1:g.1694C>T
NG_009029.2:g.7290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*392C>T	ENSP00000509954.1:n.*392C>T
ENST00000378842.8:c.804C>T MANE Select	ENSP00000368119.4:p.Thr268=
ENST00000378842.7:c.804C>T	ENSP00000368119.3:p.Thr268=
ENST00000450095.6:c.477C>T	ENSP00000401956.2:p.Thr159=
ENST00000473506.6:c.*392C>T	ENSP00000432839.2:n.*392C>T
ENST00000489643.6:n.884C>T
ENST00000554085.5:c.*548C>T	ENSP00000450419.1:n.*548C>T
ENST00000554550.5:c.*424C>T	ENSP00000451435.1:n.*424C>T
ENST00000554638.5:n.1276C>T
ENST00000555020.5:n.1265C>T
ENST00000555086.5:n.808C>T
ENST00000555754.1:n.149C>T
ENST00000556244.1:c.791C>T
ENST00000556278.1:c.432+422C>T	ENSP00000451792.1:n.432+422C>T
ENST00000557706.5:n.1366C>T
NM_000155.3:c.804C>T	NP_000146.2:p.Thr268=
NM_001258332.1:c.477C>T	NP_001245261.1:p.Thr159=
NM_000155.4:c.804C>T MANE Select	NP_000146.2:p.Thr268=
NM_001258332.2:c.477C>T	NP_001245261.1:p.Thr159=