Canonical Allele Identifier: CA2689810706

Gene: GALT

Linked Data

• gnomAD v4: 9-34649314-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649314T>C , CM000671.2:g.34649314T>C	GRCh38
NC_000009.11:g.34649311T>C , CM000671.1:g.34649311T>C	GRCh37
NC_000009.10:g.34639311T>C	NCBI36
NG_009029.1:g.7677T>C
NG_028966.1:g.2130T>C
NG_009029.2:g.7726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*493-96T>C	ENSP00000509954.1:n.*493-96T>C
ENST00000378842.8:c.905-96T>C MANE Select	ENSP00000368119.4:n.905-96T>C
ENST00000378842.7:c.905-96T>C	ENSP00000368119.3:n.905-96T>C
ENST00000450095.6:c.578-96T>C	ENSP00000401956.2:n.578-96T>C
ENST00000488412.2:n.393T>C
ENST00000489643.6:n.1217T>C
ENST00000554550.5:c.*525-96T>C	ENSP00000451435.1:n.*525-96T>C
ENST00000554638.5:n.1377-96T>C
ENST00000555020.5:n.1598T>C
ENST00000555754.1:n.353-96T>C
ENST00000556278.1:c.432+858T>C	ENSP00000451792.1:n.432+858T>C
ENST00000557706.5:n.1480-96T>C
NM_000155.3:c.905-96T>C	NP_000146.2:n.905-96T>C
NM_001258332.1:c.578-96T>C	NP_001245261.1:n.578-96T>C
NM_000155.4:c.905-96T>C MANE Select	NP_000146.2:n.905-96T>C
NM_001258332.2:c.578-96T>C	NP_001245261.1:n.578-96T>C