Canonical Allele Identifier: CA373279192

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647517T>C (hg19) ; chr9:g.34647520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647520T>C , CM000671.2:g.34647520T>C	GRCh38
NC_000009.11:g.34647517T>C , CM000671.1:g.34647517T>C	GRCh37
NC_000009.10:g.34637517T>C	NCBI36
NG_009029.1:g.5883T>C
NG_028966.1:g.336T>C
NG_009029.2:g.5932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.281T>C	ENSP00000509954.1:p.Leu94Pro
ENST00000378842.8:c.281T>C MANE Select	ENSP00000368119.4:p.Leu94Pro
ENST00000378842.7:c.281T>C	ENSP00000368119.3:p.Leu94Pro
ENST00000450095.6:c.50+262T>C	ENSP00000401956.2:n.50+262T>C
ENST00000465543.6:n.620T>C
ENST00000472111.5:n.322T>C
ENST00000473506.6:c.253-21T>C	ENSP00000432839.2:n.253-21T>C
ENST00000473529.5:n.328T>C
ENST00000485531.1:n.507T>C
ENST00000487381.5:n.540T>C
ENST00000489643.6:n.282+262T>C
ENST00000554085.5:c.*25T>C	ENSP00000450419.1:n.*25T>C
ENST00000554139.5:n.334T>C
ENST00000554330.5:n.250-21T>C
ENST00000554550.5:c.252+262T>C	ENSP00000451435.1:n.252+262T>C
ENST00000554638.5:n.538T>C
ENST00000554897.5:c.252+262T>C	ENSP00000450942.1:n.252+262T>C
ENST00000554944.5:n.283-21T>C
ENST00000555020.5:n.311T>C
ENST00000555086.5:n.285T>C
ENST00000555214.5:n.261+262T>C
ENST00000556157.1:n.405T>C
ENST00000556244.1:c.268T>C
ENST00000556278.1:c.252+262T>C	ENSP00000451792.1:n.252+262T>C
ENST00000556403.5:n.294T>C
ENST00000556494.5:n.313T>C
ENST00000557541.5:n.446-21T>C
ENST00000557706.5:n.628T>C
NM_000155.3:c.281T>C	NP_000146.2:p.Leu94Pro
NM_001258332.1:c.50+262T>C	NP_001245261.1:n.50+262T>C
NM_000155.4:c.281T>C MANE Select	NP_000146.2:p.Leu94Pro
NM_001258332.2:c.50+262T>C	NP_001245261.1:n.50+262T>C