Canonical Allele Identifier: CA5036246

Gene: GALT

Linked Data

• dbSNP Id: rs760523177
• ExAC: 9:34649361 C / T
• gnomAD v2: 9-34649361-C-T
• gnomAD v4: 9-34649364-C-T
• MyVariant Identifiers: chr9:g.34649361C>T (hg19) ; chr9:g.34649364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649364C>T , CM000671.2:g.34649364C>T	GRCh38
NC_000009.11:g.34649361C>T , CM000671.1:g.34649361C>T	GRCh37
NC_000009.10:g.34639361C>T	NCBI36
NG_009029.1:g.7727C>T
NG_028966.1:g.2180C>T
NG_009029.2:g.7776C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-46C>T	ENSP00000509954.1:n.*493-46C>T
ENST00000378842.8:c.905-46C>T MANE Select	ENSP00000368119.4:n.905-46C>T
ENST00000378842.7:c.905-46C>T	ENSP00000368119.3:n.905-46C>T
ENST00000450095.6:c.578-46C>T	ENSP00000401956.2:n.578-46C>T
ENST00000488412.2:n.443C>T
ENST00000489643.6:n.1267C>T
ENST00000554550.5:c.*525-46C>T	ENSP00000451435.1:n.*525-46C>T
ENST00000554638.5:n.1377-46C>T
ENST00000555020.5:n.1648C>T
ENST00000555754.1:n.353-46C>T
ENST00000556278.1:c.432+908C>T	ENSP00000451792.1:n.432+908C>T
ENST00000557706.5:n.1480-46C>T
NM_000155.3:c.905-46C>T	NP_000146.2:n.905-46C>T
NM_001258332.1:c.578-46C>T	NP_001245261.1:n.578-46C>T
NM_000155.4:c.905-46C>T MANE Select	NP_000146.2:n.905-46C>T
NM_001258332.2:c.578-46C>T	NP_001245261.1:n.578-46C>T