Canonical Allele Identifier: CA1123157150

Gene: GALT

Linked Data

• dbSNP Id: rs1821153345
• gnomAD v3: 9-34648052-T-C
• gnomAD v4: 9-34648052-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648052T>C , CM000671.2:g.34648052T>C	GRCh38
NC_000009.11:g.34648049T>C , CM000671.1:g.34648049T>C	GRCh37
NC_000009.10:g.34638049T>C	NCBI36
NG_009029.1:g.6415T>C
NG_028966.1:g.868T>C
NG_009029.2:g.6464T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*96-63T>C	ENSP00000509954.1:n.*96-63T>C
ENST00000378842.8:c.508-63T>C MANE Select	ENSP00000368119.4:n.508-63T>C
ENST00000378842.7:c.508-63T>C	ENSP00000368119.3:n.508-63T>C
ENST00000450095.6:c.181-63T>C	ENSP00000401956.2:n.181-63T>C
ENST00000465543.6:n.847-63T>C
ENST00000472111.5:n.764-63T>C
ENST00000473506.6:c.*96-63T>C	ENSP00000432839.2:n.*96-63T>C
ENST00000473529.5:n.644-40T>C
ENST00000485531.1:n.1039T>C
ENST00000487381.5:n.893-63T>C
ENST00000489643.6:n.283-63T>C
ENST00000554085.5:c.*252-63T>C	ENSP00000450419.1:n.*252-63T>C
ENST00000554139.5:n.691T>C
ENST00000554550.5:c.*128-63T>C	ENSP00000451435.1:n.*128-63T>C
ENST00000554638.5:n.980-63T>C
ENST00000554897.5:c.*132T>C	ENSP00000450942.1:n.*132T>C
ENST00000554944.5:n.794T>C
ENST00000555020.5:n.664-63T>C
ENST00000555086.5:n.512-63T>C
ENST00000555214.5:n.266T>C
ENST00000556244.1:c.495-63T>C
ENST00000556278.1:c.253-63T>C	ENSP00000451792.1:n.253-63T>C
ENST00000556494.5:n.629-63T>C
ENST00000557706.5:n.1070-63T>C
NM_000155.3:c.508-63T>C	NP_000146.2:n.508-63T>C
NM_001258332.1:c.181-63T>C	NP_001245261.1:n.181-63T>C
NM_000155.4:c.508-63T>C MANE Select	NP_000146.2:n.508-63T>C
NM_001258332.2:c.181-63T>C	NP_001245261.1:n.181-63T>C