Canonical Allele Identifier: CA1909107825
Community Standard Title: NM_019893.4(ASAH2):c.-37+447G=
Gene: ASAH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.50250948C= , CM000672.2:g.50250948C= GRCh38
NC_000010.10:g.52010708C= , CM000672.1:g.52010708C= GRCh37
NC_000010.9:g.51680714C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019893.4:c.-37+447G= MANE Select NP_063946.2:n.-37+447G=
ENST00000682911.1:c.-37+447G= MANE Select ENSP00000506746.1:n.-37+447G=
NM_001143974.3:c.-37+447G= NP_001137446.1:n.-37+447G=
ENST00000395526.9:c.-37+447G= ENSP00000378897.3:n.-37+447G=
XM_011539970.1:c.-37+447G= XP_011538272.1:n.-37+447G=
XM_011539970.2:c.-37+447G= XP_011538272.1:n.-37+447G=
XM_011539971.1:c.-37+447G= XP_011538273.1:n.-37+447G=
XM_011539971.2:c.-37+447G= XP_011538273.1:n.-37+447G=
XM_011539972.1:c.-37+447G= XP_011538274.1:n.-37+447G=
XM_011539972.3:c.-37+447G= XP_011538274.1:n.-37+447G=
XM_011539973.1:c.-37+447G= XP_011538275.1:n.-37+447G=
XM_011539973.3:c.-37+447G= XP_011538275.1:n.-37+447G=
XM_017016435.1:c.-37+447G= XP_016871924.1:n.-37+447G=
XR_002956990.1:n.169+447G=
XR_945787.1:n.182+447G=