Canonical Allele Identifier: CA5036233

Gene: GALT

Linked Data

• ClinVar Variation Id: 1129674
• ClinVar RCV Id: RCV001462892
• dbSNP Id: rs755776140
• ExAC: 9:34649005 C / T
• gnomAD v2: 9-34649005-C-T
• gnomAD v4: 9-34649008-C-T
• MyVariant Identifiers: chr9:g.34649005C>T (hg19) ; chr9:g.34649008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649008C>T , CM000671.2:g.34649008C>T	GRCh38
NC_000009.11:g.34649005C>T , CM000671.1:g.34649005C>T	GRCh37
NC_000009.10:g.34639005C>T	NCBI36
NG_009029.1:g.7371C>T
NG_028966.1:g.1824C>T
NG_009029.2:g.7420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*419C>T	ENSP00000509954.1:n.*419C>T
ENST00000378842.8:c.831C>T MANE Select	ENSP00000368119.4:p.Ser277=
ENST00000378842.7:c.831C>T	ENSP00000368119.3:p.Ser277=
ENST00000450095.6:c.504C>T	ENSP00000401956.2:p.Ser168=
ENST00000488412.2:n.87C>T
ENST00000489643.6:n.911C>T
ENST00000554085.5:c.*575C>T	ENSP00000450419.1:n.*575C>T
ENST00000554550.5:c.*451C>T	ENSP00000451435.1:n.*451C>T
ENST00000554638.5:n.1303C>T
ENST00000555020.5:n.1292C>T
ENST00000555086.5:n.938C>T
ENST00000555754.1:n.279C>T
ENST00000556278.1:c.432+552C>T	ENSP00000451792.1:n.432+552C>T
ENST00000557706.5:n.1406C>T
NM_000155.3:c.831C>T	NP_000146.2:p.Ser277=
NM_001258332.1:c.504C>T	NP_001245261.1:p.Ser168=
NM_000155.4:c.831C>T MANE Select	NP_000146.2:p.Ser277=
NM_001258332.2:c.504C>T	NP_001245261.1:p.Ser168=