Canonical Allele Identifier: CA373284011

Gene: GALT

Linked Data

• gnomAD v4: 9-34648879-C-T
• MyVariant Identifiers: chr9:g.34648876C>T (hg19) ; chr9:g.34648879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648879C>T , CM000671.2:g.34648879C>T	GRCh38
NC_000009.11:g.34648876C>T , CM000671.1:g.34648876C>T	GRCh37
NC_000009.10:g.34638876C>T	NCBI36
NG_009029.1:g.7242C>T
NG_028966.1:g.1695C>T
NG_009029.2:g.7291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*393C>T	ENSP00000509954.1:n.*393C>T
ENST00000378842.8:c.805C>T MANE Select	ENSP00000368119.4:p.Pro269Ser
ENST00000378842.7:c.805C>T	ENSP00000368119.3:p.Pro269Ser
ENST00000450095.6:c.478C>T	ENSP00000401956.2:p.Pro160Ser
ENST00000473506.6:c.*393C>T	ENSP00000432839.2:n.*393C>T
ENST00000489643.6:n.885C>T
ENST00000554085.5:c.*549C>T	ENSP00000450419.1:n.*549C>T
ENST00000554550.5:c.*425C>T	ENSP00000451435.1:n.*425C>T
ENST00000554638.5:n.1277C>T
ENST00000555020.5:n.1266C>T
ENST00000555086.5:n.809C>T
ENST00000555754.1:n.150C>T
ENST00000556244.1:c.792C>T
ENST00000556278.1:c.432+423C>T	ENSP00000451792.1:n.432+423C>T
ENST00000557706.5:n.1367C>T
NM_000155.3:c.805C>T	NP_000146.2:p.Pro269Ser
NM_001258332.1:c.478C>T	NP_001245261.1:p.Pro160Ser
NM_000155.4:c.805C>T MANE Select	NP_000146.2:p.Pro269Ser
NM_001258332.2:c.478C>T	NP_001245261.1:p.Pro160Ser