Canonical Allele Identifier: CA2689808604

Gene: GALT

Linked Data

• gnomAD v4: 9-34647409-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647409T>C , CM000671.2:g.34647409T>C	GRCh38
NC_000009.11:g.34647406T>C , CM000671.1:g.34647406T>C	GRCh37
NC_000009.10:g.34637406T>C	NCBI36
NG_009029.1:g.5772T>C
NG_028966.1:g.225T>C
NG_009029.2:g.5821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-83T>C	ENSP00000509954.1:n.253-83T>C
ENST00000378842.8:c.253-83T>C MANE Select	ENSP00000368119.4:n.253-83T>C
ENST00000378842.7:c.253-83T>C	ENSP00000368119.3:n.253-83T>C
ENST00000450095.6:c.50+151T>C	ENSP00000401956.2:n.50+151T>C
ENST00000465543.6:n.592-83T>C
ENST00000468099.2:n.443T>C
ENST00000472111.5:n.294-83T>C
ENST00000473506.6:c.253-132T>C	ENSP00000432839.2:n.253-132T>C
ENST00000473529.5:n.300-83T>C
ENST00000485531.1:n.396T>C
ENST00000487381.5:n.429T>C
ENST00000489643.6:n.282+151T>C
ENST00000554085.5:c.253-66T>C	ENSP00000450419.1:n.253-66T>C
ENST00000554139.5:n.306-83T>C
ENST00000554330.5:n.250-132T>C
ENST00000554550.5:c.252+151T>C	ENSP00000451435.1:n.252+151T>C
ENST00000554638.5:n.427T>C
ENST00000554897.5:c.252+151T>C	ENSP00000450942.1:n.252+151T>C
ENST00000554944.5:n.283-132T>C
ENST00000555020.5:n.283-83T>C
ENST00000555086.5:n.257-83T>C
ENST00000555214.5:n.261+151T>C
ENST00000556157.1:n.360-66T>C
ENST00000556244.1:c.157T>C
ENST00000556278.1:c.252+151T>C	ENSP00000451792.1:n.252+151T>C
ENST00000556403.5:n.266-83T>C
ENST00000556494.5:n.285-83T>C
ENST00000557541.5:n.446-132T>C
ENST00000557706.5:n.517T>C
NM_000155.3:c.253-83T>C	NP_000146.2:n.253-83T>C
NM_001258332.1:c.50+151T>C	NP_001245261.1:n.50+151T>C
NM_000155.4:c.253-83T>C MANE Select	NP_000146.2:n.253-83T>C
NM_001258332.2:c.50+151T>C	NP_001245261.1:n.50+151T>C