Canonical Allele Identifier: CA373284467

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649060T>C (hg19) ; chr9:g.34649063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649063T>C , CM000671.2:g.34649063T>C	GRCh38
NC_000009.11:g.34649060T>C , CM000671.1:g.34649060T>C	GRCh37
NC_000009.10:g.34639060T>C	NCBI36
NG_009029.1:g.7426T>C
NG_028966.1:g.1879T>C
NG_009029.2:g.7475T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*474T>C	ENSP00000509954.1:n.*474T>C
ENST00000378842.8:c.886T>C MANE Select	ENSP00000368119.4:p.Tyr296His
ENST00000378842.7:c.886T>C	ENSP00000368119.3:p.Tyr296His
ENST00000450095.6:c.559T>C	ENSP00000401956.2:p.Tyr187His
ENST00000488412.2:n.142T>C
ENST00000489643.6:n.966T>C
ENST00000554550.5:c.*506T>C	ENSP00000451435.1:n.*506T>C
ENST00000554638.5:n.1358T>C
ENST00000555020.5:n.1347T>C
ENST00000555086.5:n.993T>C
ENST00000555754.1:n.334T>C
ENST00000556278.1:c.432+607T>C	ENSP00000451792.1:n.432+607T>C
ENST00000557706.5:n.1461T>C
NM_000155.3:c.886T>C	NP_000146.2:p.Tyr296His
NM_001258332.1:c.559T>C	NP_001245261.1:p.Tyr187His
NM_000155.4:c.886T>C MANE Select	NP_000146.2:p.Tyr296His
NM_001258332.2:c.559T>C	NP_001245261.1:p.Tyr187His