Canonical Allele Identifier: CA361652173

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510909G>A (hg19) ; chr5:g.148131346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131346G>A , CM000667.2:g.148131346G>A	GRCh38
NC_000005.9:g.147510909G>A , CM000667.1:g.147510909G>A	GRCh37
NC_000005.8:g.147491102G>A	NCBI36
NG_009633.1:g.72375G>A , LRG_110:g.72375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3052G>A MANE Select	ENSP00000256084.7:p.Gly1018Ser
ENST00000256084.7:c.3052G>A	ENSP00000256084.7:p.Gly1018Ser
ENST00000359874.7:c.3142G>A	ENSP00000352936.3:p.Gly1048Ser
NM_001127698.1:c.3142G>A	NP_001121170.1:p.Gly1048Ser
NM_006846.3:c.3052G>A , LRG_110t1:c.3052G>A	NP_006837.2:p.Gly1018Ser
XM_011537550.1:c.3085G>A	XP_011535852.1:p.Gly1029Ser
XM_011537551.1:c.3058G>A	XP_011535853.1:p.Gly1020Ser
XM_011537551.2:c.3058G>A	XP_011535853.1:p.Gly1020Ser
NM_001127698.2:c.3142G>A	NP_001121170.1:p.Gly1048Ser
NM_006846.4:c.3052G>A MANE Select	NP_006837.2:p.Gly1018Ser