Canonical Allele Identifier: CA373284498

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649066A>C (hg19) ; chr9:g.34649069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649069A>C , CM000671.2:g.34649069A>C	GRCh38
NC_000009.11:g.34649066A>C , CM000671.1:g.34649066A>C	GRCh37
NC_000009.10:g.34639066A>C	NCBI36
NG_009029.1:g.7432A>C
NG_028966.1:g.1885A>C
NG_009029.2:g.7481A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*480A>C	ENSP00000509954.1:n.*480A>C
ENST00000378842.8:c.892A>C MANE Select	ENSP00000368119.4:p.Met298Leu
ENST00000378842.7:c.892A>C	ENSP00000368119.3:p.Met298Leu
ENST00000450095.6:c.565A>C	ENSP00000401956.2:p.Met189Leu
ENST00000488412.2:n.148A>C
ENST00000489643.6:n.972A>C
ENST00000554550.5:c.*512A>C	ENSP00000451435.1:n.*512A>C
ENST00000554638.5:n.1364A>C
ENST00000555020.5:n.1353A>C
ENST00000555086.5:n.999A>C
ENST00000555754.1:n.340A>C
ENST00000556278.1:c.432+613A>C	ENSP00000451792.1:n.432+613A>C
ENST00000557706.5:n.1467A>C
NM_000155.3:c.892A>C	NP_000146.2:p.Met298Leu
NM_001258332.1:c.565A>C	NP_001245261.1:p.Met189Leu
NM_000155.4:c.892A>C MANE Select	NP_000146.2:p.Met298Leu
NM_001258332.2:c.565A>C	NP_001245261.1:p.Met189Leu