Canonical Allele Identifier: CA361651902

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510832T>A (hg19) ; chr5:g.148131269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131269T>A , CM000667.2:g.148131269T>A	GRCh38
NC_000005.9:g.147510832T>A , CM000667.1:g.147510832T>A	GRCh37
NC_000005.8:g.147491025T>A	NCBI36
NG_009633.1:g.72298T>A , LRG_110:g.72298T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2975T>A MANE Select	ENSP00000256084.7:p.Met992Lys
ENST00000256084.7:c.2975T>A	ENSP00000256084.7:p.Met992Lys
ENST00000359874.7:c.3065T>A	ENSP00000352936.3:p.Met1022Lys
NM_001127698.1:c.3065T>A	NP_001121170.1:p.Met1022Lys
NM_006846.3:c.2975T>A , LRG_110t1:c.2975T>A	NP_006837.2:p.Met992Lys
XM_011537550.1:c.3008T>A	XP_011535852.1:p.Met1003Lys
XM_011537551.1:c.2981T>A	XP_011535853.1:p.Met994Lys
XM_011537551.2:c.2981T>A	XP_011535853.1:p.Met994Lys
NM_001127698.2:c.3065T>A	NP_001121170.1:p.Met1022Lys
NM_006846.4:c.2975T>A MANE Select	NP_006837.2:p.Met992Lys