Canonical Allele Identifier: CA373283912

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648850A>C (hg19) ; chr9:g.34648853A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*367A>C	ENSP00000509954.1:n.*367A>C
ENST00000378842.8:c.779A>C MANE Select	ENSP00000368119.4:p.His260Pro
ENST00000378842.7:c.779A>C	ENSP00000368119.3:p.His260Pro
ENST00000450095.6:c.452A>C	ENSP00000401956.2:p.His151Pro
ENST00000473506.6:c.*367A>C	ENSP00000432839.2:n.*367A>C
ENST00000489643.6:n.859A>C
ENST00000554085.5:c.*523A>C	ENSP00000450419.1:n.*523A>C
ENST00000554550.5:c.*399A>C	ENSP00000451435.1:n.*399A>C
ENST00000554638.5:n.1251A>C
ENST00000555020.5:n.1240A>C
ENST00000555086.5:n.783A>C
ENST00000555754.1:n.124A>C
ENST00000556244.1:c.766A>C
ENST00000556278.1:c.432+397A>C	ENSP00000451792.1:n.432+397A>C
ENST00000557706.5:n.1341A>C
NM_000155.3:c.779A>C	NP_000146.2:p.His260Pro
NM_001258332.1:c.452A>C	NP_001245261.1:p.His151Pro
NM_000155.4:c.779A>C MANE Select	NP_000146.2:p.His260Pro
NM_001258332.2:c.452A>C	NP_001245261.1:p.His151Pro