Canonical Allele Identifier: CA373283622

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648801C>T (hg19) ; chr9:g.34648804C>T (hg38)
• PubMed: PMID:25592817

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648804C>T , CM000671.2:g.34648804C>T	GRCh38
NC_000009.11:g.34648801C>T , CM000671.1:g.34648801C>T	GRCh37
NC_000009.10:g.34638801C>T	NCBI36
NG_009029.1:g.7167C>T
NG_028966.1:g.1620C>T
NG_009029.2:g.7216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*318C>T	ENSP00000509954.1:n.*318C>T
ENST00000378842.8:c.730C>T MANE Select	ENSP00000368119.4:p.Pro244Ser
ENST00000378842.7:c.730C>T	ENSP00000368119.3:p.Pro244Ser
ENST00000450095.6:c.403C>T	ENSP00000401956.2:p.Pro135Ser
ENST00000473506.6:c.*318C>T	ENSP00000432839.2:n.*318C>T
ENST00000473529.5:n.889C>T
ENST00000487381.5:n.1420C>T
ENST00000489643.6:n.810C>T
ENST00000554085.5:c.*474C>T	ENSP00000450419.1:n.*474C>T
ENST00000554550.5:c.*350C>T	ENSP00000451435.1:n.*350C>T
ENST00000554638.5:n.1202C>T
ENST00000555020.5:n.1191C>T
ENST00000555086.5:n.734C>T
ENST00000555754.1:n.75C>T
ENST00000556244.1:c.717C>T
ENST00000556278.1:c.432+348C>T	ENSP00000451792.1:n.432+348C>T
ENST00000557706.5:n.1292C>T
NM_000155.3:c.730C>T	NP_000146.2:p.Pro244Ser
NM_001258332.1:c.403C>T	NP_001245261.1:p.Pro135Ser
NM_000155.4:c.730C>T MANE Select	NP_000146.2:p.Pro244Ser
NM_001258332.2:c.403C>T	NP_001245261.1:p.Pro135Ser