Canonical Allele Identifier: CA373283984

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648871T>C (hg19) ; chr9:g.34648874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648874T>C , CM000671.2:g.34648874T>C	GRCh38
NC_000009.11:g.34648871T>C , CM000671.1:g.34648871T>C	GRCh37
NC_000009.10:g.34638871T>C	NCBI36
NG_009029.1:g.7237T>C
NG_028966.1:g.1690T>C
NG_009029.2:g.7286T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*388T>C	ENSP00000509954.1:n.*388T>C
ENST00000378842.8:c.800T>C MANE Select	ENSP00000368119.4:p.Leu267Pro
ENST00000378842.7:c.800T>C	ENSP00000368119.3:p.Leu267Pro
ENST00000450095.6:c.473T>C	ENSP00000401956.2:p.Leu158Pro
ENST00000473506.6:c.*388T>C	ENSP00000432839.2:n.*388T>C
ENST00000489643.6:n.880T>C
ENST00000554085.5:c.*544T>C	ENSP00000450419.1:n.*544T>C
ENST00000554550.5:c.*420T>C	ENSP00000451435.1:n.*420T>C
ENST00000554638.5:n.1272T>C
ENST00000555020.5:n.1261T>C
ENST00000555086.5:n.804T>C
ENST00000555754.1:n.145T>C
ENST00000556244.1:c.787T>C
ENST00000556278.1:c.432+418T>C	ENSP00000451792.1:n.432+418T>C
ENST00000557706.5:n.1362T>C
NM_000155.3:c.800T>C	NP_000146.2:p.Leu267Pro
NM_001258332.1:c.473T>C	NP_001245261.1:p.Leu158Pro
NM_000155.4:c.800T>C MANE Select	NP_000146.2:p.Leu267Pro
NM_001258332.2:c.473T>C	NP_001245261.1:p.Leu158Pro