Canonical Allele Identifier: CA373283866

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648835T>C (hg19) ; chr9:g.34648838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648838T>C , CM000671.2:g.34648838T>C	GRCh38
NC_000009.11:g.34648835T>C , CM000671.1:g.34648835T>C	GRCh37
NC_000009.10:g.34638835T>C	NCBI36
NG_009029.1:g.7201T>C
NG_028966.1:g.1654T>C
NG_009029.2:g.7250T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*352T>C	ENSP00000509954.1:n.*352T>C
ENST00000378842.8:c.764T>C MANE Select	ENSP00000368119.4:p.Leu255Pro
ENST00000378842.7:c.764T>C	ENSP00000368119.3:p.Leu255Pro
ENST00000450095.6:c.437T>C	ENSP00000401956.2:p.Leu146Pro
ENST00000473506.6:c.*352T>C	ENSP00000432839.2:n.*352T>C
ENST00000489643.6:n.844T>C
ENST00000554085.5:c.*508T>C	ENSP00000450419.1:n.*508T>C
ENST00000554550.5:c.*384T>C	ENSP00000451435.1:n.*384T>C
ENST00000554638.5:n.1236T>C
ENST00000555020.5:n.1225T>C
ENST00000555086.5:n.768T>C
ENST00000555754.1:n.109T>C
ENST00000556244.1:c.751T>C
ENST00000556278.1:c.432+382T>C	ENSP00000451792.1:n.432+382T>C
ENST00000557706.5:n.1326T>C
NM_000155.3:c.764T>C	NP_000146.2:p.Leu255Pro
NM_001258332.1:c.437T>C	NP_001245261.1:p.Leu146Pro
NM_000155.4:c.764T>C MANE Select	NP_000146.2:p.Leu255Pro
NM_001258332.2:c.437T>C	NP_001245261.1:p.Leu146Pro