Canonical Allele Identifier: CA373283797

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648822T>C (hg19) ; chr9:g.34648825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648825T>C , CM000671.2:g.34648825T>C	GRCh38
NC_000009.11:g.34648822T>C , CM000671.1:g.34648822T>C	GRCh37
NC_000009.10:g.34638822T>C	NCBI36
NG_009029.1:g.7188T>C
NG_028966.1:g.1641T>C
NG_009029.2:g.7237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*339T>C	ENSP00000509954.1:n.*339T>C
ENST00000378842.8:c.751T>C MANE Select	ENSP00000368119.4:p.Tyr251His
ENST00000378842.7:c.751T>C	ENSP00000368119.3:p.Tyr251His
ENST00000450095.6:c.424T>C	ENSP00000401956.2:p.Tyr142His
ENST00000473506.6:c.*339T>C	ENSP00000432839.2:n.*339T>C
ENST00000473529.5:n.910T>C
ENST00000487381.5:n.1441T>C
ENST00000489643.6:n.831T>C
ENST00000554085.5:c.*495T>C	ENSP00000450419.1:n.*495T>C
ENST00000554550.5:c.*371T>C	ENSP00000451435.1:n.*371T>C
ENST00000554638.5:n.1223T>C
ENST00000555020.5:n.1212T>C
ENST00000555086.5:n.755T>C
ENST00000555754.1:n.96T>C
ENST00000556244.1:c.738T>C
ENST00000556278.1:c.432+369T>C	ENSP00000451792.1:n.432+369T>C
ENST00000557706.5:n.1313T>C
NM_000155.3:c.751T>C	NP_000146.2:p.Tyr251His
NM_001258332.1:c.424T>C	NP_001245261.1:p.Tyr142His
NM_000155.4:c.751T>C MANE Select	NP_000146.2:p.Tyr251His
NM_001258332.2:c.424T>C	NP_001245261.1:p.Tyr142His