Canonical Allele Identifier: CA373283914

Gene: GALT

Linked Data

• ClinVar Variation Id: 2683040
• ClinVar RCV Id: RCV003481907
• MyVariant Identifiers: chr9:g.34648850A>T (hg19) ; chr9:g.34648853A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648853A>T , CM000671.2:g.34648853A>T	GRCh38
NC_000009.11:g.34648850A>T , CM000671.1:g.34648850A>T	GRCh37
NC_000009.10:g.34638850A>T	NCBI36
NG_009029.1:g.7216A>T
NG_028966.1:g.1669A>T
NG_009029.2:g.7265A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*367A>T	ENSP00000509954.1:n.*367A>T
ENST00000378842.8:c.779A>T MANE Select	ENSP00000368119.4:p.His260Leu
ENST00000378842.7:c.779A>T	ENSP00000368119.3:p.His260Leu
ENST00000450095.6:c.452A>T	ENSP00000401956.2:p.His151Leu
ENST00000473506.6:c.*367A>T	ENSP00000432839.2:n.*367A>T
ENST00000489643.6:n.859A>T
ENST00000554085.5:c.*523A>T	ENSP00000450419.1:n.*523A>T
ENST00000554550.5:c.*399A>T	ENSP00000451435.1:n.*399A>T
ENST00000554638.5:n.1251A>T
ENST00000555020.5:n.1240A>T
ENST00000555086.5:n.783A>T
ENST00000555754.1:n.124A>T
ENST00000556244.1:c.766A>T
ENST00000556278.1:c.432+397A>T	ENSP00000451792.1:n.432+397A>T
ENST00000557706.5:n.1341A>T
NM_000155.3:c.779A>T	NP_000146.2:p.His260Leu
NM_001258332.1:c.452A>T	NP_001245261.1:p.His151Leu
NM_000155.4:c.779A>T MANE Select	NP_000146.2:p.His260Leu
NM_001258332.2:c.452A>T	NP_001245261.1:p.His151Leu