Canonical Allele Identifier: CA5283133
Gene: ASS1 HGNC NCBI

Linked Data

dbSNP Id: rs762279472

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452292G>T , CM000671.2:g.130452292G>T GRCh38
NC_000009.11:g.133327679G>T , CM000671.1:g.133327679G>T GRCh37
NC_000009.10:g.132317500G>T NCBI36
NG_011542.1:g.12586G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.64G>T MANE Select ENSP00000253004.6:p.Val22Leu
ENST00000352480.9:c.64G>T ENSP00000253004.6:p.Val22Leu
ENST00000372393.7:c.64G>T ENSP00000361469.2:p.Val22Leu
ENST00000372394.5:c.64G>T ENSP00000361471.1:p.Val22Leu
ENST00000422569.5:c.64G>T ENSP00000394212.1:p.Val22Leu
ENST00000443588.1:c.64G>T ENSP00000397785.1:p.Val22Leu
NM_000050.4:c.64G>T NP_000041.2:p.Val22Leu
NM_054012.3:c.64G>T NP_446464.1:p.Val22Leu
XM_005272200.2:c.64G>T XP_005272257.1:p.Val22Leu
XM_011518705.1:c.178G>T XP_011517007.1:p.Val60Leu
XM_005272200.3:c.64G>T XP_005272257.1:p.Val22Leu
XM_011518705.2:c.178G>T XP_011517007.1:p.Val60Leu
XM_017014729.1:c.160G>T XP_016870218.1:p.Val54Leu
NM_054012.4:c.64G>T MANE Select NP_446464.1:p.Val22Leu