Canonical Allele Identifier: CA14232508

Gene: GSE1

Linked Data

• dbSNP Id: rs4240810
• gnomAD v2: 16-85625127-G-T
• gnomAD v3: 16-85591521-G-T
• gnomAD v4: 16-85591521-G-T
• MyVariant Identifiers: chr16:g.85625127G>T (hg19) ; chr16:g.85591521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85591521G>T , CM000678.2:g.85591521G>T	GRCh38
NC_000016.9:g.85625127G>T , CM000678.1:g.85625127G>T	GRCh37
NC_000016.8:g.84182628G>T	NCBI36
NG_054715.1:g.427010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635906.1:c.37+35158G>T	ENSP00000490289.1:n.37+35158G>T
ENST00000637419.1:c.2465-42393G>T	ENSP00000490157.1:n.2465-42393G>T
XM_005255859.3:c.1592-42393G>T	XP_005255916.2:n.1592-42393G>T
XM_005255860.2:c.1592-42393G>T	XP_005255917.2:n.1592-42393G>T
XM_005255861.3:c.1592-57031G>T	XP_005255918.2:n.1592-57031G>T
XM_005255862.2:c.1592-42393G>T	XP_005255919.2:n.1592-42393G>T
XM_005255863.3:c.44-42393G>T	XP_005255920.1:n.44-42393G>T
XM_005255864.3:c.37+35158G>T	XP_005255921.1:n.37+35158G>T
XM_005255865.3:c.37+35158G>T	XP_005255922.1:n.37+35158G>T
XM_011522965.1:c.116-42393G>T	XP_011521267.1:n.116-42393G>T
XM_011522967.1:c.44-57031G>T	XP_011521269.1:n.44-57031G>T
XM_005255859.5:c.2132-42393G>T	XP_005255916.3:n.2132-42393G>T
XM_005255860.3:c.2132-42393G>T	XP_005255917.3:n.2132-42393G>T
XM_005255861.5:c.2132-57031G>T	XP_005255918.3:n.2132-57031G>T
XM_005255863.4:c.44-42393G>T	XP_005255920.1:n.44-42393G>T
XM_005255864.4:c.37+35158G>T	XP_005255921.1:n.37+35158G>T
XM_005255865.4:c.37+35158G>T	XP_005255922.1:n.37+35158G>T
XM_011522965.3:c.116-42393G>T	XP_011521267.1:n.116-42393G>T
XM_017023083.1:c.-3+34140G>T	XP_016878572.1:n.-3+34140G>T
XR_001751876.1:n.2475-42393G>T