Canonical Allele Identifier: CA464403250

Gene: GALT

Linked Data

• dbSNP Id: rs1414236971
• gnomAD v2: 9-34648861-C-T
• gnomAD v4: 9-34648864-C-T
• MyVariant Identifiers: chr9:g.34648861C>T (hg19) ; chr9:g.34648864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648864C>T , CM000671.2:g.34648864C>T	GRCh38
NC_000009.11:g.34648861C>T , CM000671.1:g.34648861C>T	GRCh37
NC_000009.10:g.34638861C>T	NCBI36
NG_009029.1:g.7227C>T
NG_028966.1:g.1680C>T
NG_009029.2:g.7276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*378C>T	ENSP00000509954.1:n.*378C>T
ENST00000378842.8:c.790C>T MANE Select	ENSP00000368119.4:p.Leu264=
ENST00000378842.7:c.790C>T	ENSP00000368119.3:p.Leu264=
ENST00000450095.6:c.463C>T	ENSP00000401956.2:p.Leu155=
ENST00000473506.6:c.*378C>T	ENSP00000432839.2:n.*378C>T
ENST00000489643.6:n.870C>T
ENST00000554085.5:c.*534C>T	ENSP00000450419.1:n.*534C>T
ENST00000554550.5:c.*410C>T	ENSP00000451435.1:n.*410C>T
ENST00000554638.5:n.1262C>T
ENST00000555020.5:n.1251C>T
ENST00000555086.5:n.794C>T
ENST00000555754.1:n.135C>T
ENST00000556244.1:c.777C>T
ENST00000556278.1:c.432+408C>T	ENSP00000451792.1:n.432+408C>T
ENST00000557706.5:n.1352C>T
NM_000155.3:c.790C>T	NP_000146.2:p.Leu264=
NM_001258332.1:c.463C>T	NP_001245261.1:p.Leu155=
NM_000155.4:c.790C>T MANE Select	NP_000146.2:p.Leu264=
NM_001258332.2:c.463C>T	NP_001245261.1:p.Leu155=